Allele Registry

Canonical Allele Identifier: PA2830145208

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

490523

ClinVar RCV:

RCV000597561

RCV000653557

RCV002224968

RCV003483687

ClinVar Variation:

499099

HGVS (amino-acid)	Matching Registered Transcripts
NP_476505.3:p.Ala362Val	CA2189430 NM_057164.5:c.1085C>T