Allele Registry

Canonical Allele Identifier: PA2830145114

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

286096

ClinVar RCV:

RCV000377726

RCV000997706

RCV001865214

ClinVar Variation:

335137

HGVS (amino-acid)	Matching Registered Transcripts
NP_476505.3:p.Val259Ile	CA2189498 NM_057164.5:c.775G>A