Allele Registry

Canonical Allele Identifier: PA645455286

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000396913

RCV001368271

RCV004021271

ClinVar Variation:

289183

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Arg1535Cys	CA2188856 NM_004369.4:c.4603C>T