Allele Registry

Canonical Allele Identifier: PA275396

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

195634

ClinVar RCV:

RCV000179831

RCV000179832

ClinVar Variation:

198473

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Gly292Val	CA275394 NM_001849.4:c.875G>T