Allele Registry

Canonical Allele Identifier: PA2830145403

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000372216

RCV000527253

RCV000765646

RCV004549607

ClinVar Variation:

288419

HGVS (amino-acid)	Matching Registered Transcripts
NP_476505.3:p.Gly612Arg	CA2189266 NM_057164.5:c.1834G>A CA351206708 NM_057164.5:c.1834G>C