Allele Registry

Canonical Allele Identifier: PA2830152155

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000388801

RCV000653599

ClinVar Variation:

282182

HGVS (amino-acid)	Matching Registered Transcripts
NP_478054.2:p.Gly499Glu	CA10604094 NM_058174.3:c.1496G>A