Allele Registry

Canonical Allele Identifier: PA2830151641

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

192313

ClinVar RCV:

RCV000724735

RCV001084510

ClinVar Variation:

195152

HGVS (amino-acid)	Matching Registered Transcripts
NP_478054.2:p.Val8Met	CA241442 NM_058174.3:c.22G>A