Allele Registry

Canonical Allele Identifier: PA916053763

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

272656

ClinVar RCV:

RCV000372216

RCV000527253

RCV000765646

RCV004549607

ClinVar Variation:

288419

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Gly813Arg	CA2189266 NM_057167.4:c.2437G>A CA351206708 NM_057167.4:c.2437G>C