Allele Registry

Canonical Allele Identifier: PA2830152363

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000171510

RCV001337641

ClinVar Variation:

191318

HGVS (amino-acid)	Matching Registered Transcripts
NP_478054.2:p.Ser666Asn	CA236432 NM_058174.3:c.1997G>A