Allele Registry

Canonical Allele Identifier: PA916053558

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000353475

RCV000625838

RCV003338503

ClinVar Variation:

286160

HGVS (amino-acid)	Matching Registered Transcripts
NP_476505.3:p.Asp967Val	CA2188989 NM_057164.5:c.2900A>T