Allele Registry

Canonical Allele Identifier: PA2830149565

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000520483

RCV000653583

ClinVar Variation:

451667

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Val1272Met	CA2188895 NM_057167.4:c.3814G>A