Allele Registry

Canonical Allele Identifier: PA645455537

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

268291

ClinVar RCV:

RCV000339597

RCV001364006

ClinVar Variation:

284054

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Cys3060Trp	CA2187338 NM_004369.4:c.9180C>G