Allele Registry

Canonical Allele Identifier: PA916053656

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

273420

ClinVar RCV:

RCV000396913

RCV001368271

RCV004021271

ClinVar Variation:

289183

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Arg928Cys	CA2188856 NM_057166.5:c.2782C>T