Allele Registry

Canonical Allele Identifier: PA2830151899

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000179391

ClinVar Variation:

198136

HGVS (amino-acid)	Matching Registered Transcripts
NP_478054.2:p.Gly271Asp	CA275346 NM_058174.3:c.812G>A