Allele Registry

Canonical Allele Identifier: PA645454696

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

266085

ClinVar RCV:

RCV000316225

RCV000526526

ClinVar Variation:

281848

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Val374Met	CA2189701 NM_004369.4:c.1120G>A