Allele Registry

Canonical Allele Identifier: PA916053767

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000324975

RCV000697460

RCV000725699

RCV001535515

ClinVar Variation:

285594

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Val834Ile	CA2189239 NM_057167.4:c.2500G>A