Allele Registry

Canonical Allele Identifier: PA645455064

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000372216

RCV000527253

RCV000765646

RCV004549607

ClinVar Variation:

288419

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Gly1019Arg	CA2189266 NM_004369.4:c.3055G>A CA351206708 NM_004369.4:c.3055G>C