Allele Registry

Canonical Allele Identifier: PA2830151838

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000394295

RCV000537791

RCV001136630

ClinVar Variation:

288278

HGVS (amino-acid)	Matching Registered Transcripts
NP_478054.2:p.Glu210Lys	CA10071356 NM_058174.3:c.628G>A