Allele Registry

Canonical Allele Identifier: PA2830151674

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000593689

RCV001215044

ClinVar Variation:

498068

HGVS (amino-acid)	Matching Registered Transcripts
NP_478054.2:p.Val47Met	CA10071219 NM_058174.3:c.139G>A