Allele Registry

Canonical Allele Identifier: PA2830148583

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000339597

RCV001364006

ClinVar Variation:

284054

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Cys2453Trp	CA2187338 NM_057166.5:c.7359C>G