Open gromdimon opened 2 months ago
Describe the bug There are examples, where pHGVS is not set (p.?), but do however exist in other databases.
To Reproduce Example: NM_004360.3:c.2506G>T (p.Glu836Ter) (Gene: CDH1) It gives the pHGVS result by Autopvs1 as NP_004351.1:p.Glu836Ter (link: https://autopvs1.bgi.com/variant/hg19/16-68867259-G-T) compare to one from mehari: 'NM_004360.5:p.?' (link: https://github.com/bihealth/autopvs1/blob/main/tests/assets/cdh1_mehari_seqvar.json)
NM_004360.3:c.2506G>T
Expected behavior pHGVS should be set properly.
Screenshots N/A
Additional context N/A
Describe the bug There are examples, where pHGVS is not set (p.?), but do however exist in other databases.
To Reproduce Example:
NM_004360.3:c.2506G>T(p.Glu836Ter) (Gene: CDH1) It gives the pHGVS result by Autopvs1 as NP_004351.1:p.Glu836Ter (link: https://autopvs1.bgi.com/variant/hg19/16-68867259-G-T) compare to one from mehari: 'NM_004360.5:p.?' (link: https://github.com/bihealth/autopvs1/blob/main/tests/assets/cdh1_mehari_seqvar.json)Expected behavior pHGVS should be set properly.
Screenshots N/A
Additional context N/A