Allele Registry

Canonical Allele Identifier: PA2830151693

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000337273

RCV001223613

ClinVar Variation:

285361

HGVS (amino-acid)	Matching Registered Transcripts
NP_478054.2:p.Thr63Met	CA10071227 NM_058174.3:c.188C>T