Allele Registry

Canonical Allele Identifier: PA2830152087

Gene: COL6A2 HGNC NCBI

ClinVar Variation Id: 289769

HGVS (amino-acid)	Matching Registered Transcripts
NP_478054.2:p.Gly430Ser	CA10071820 NM_058174.3:c.1288G>A