Allele Registry

Canonical Allele Identifier: PA2830151739

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000730361

RCV001084615

ClinVar Variation:

476487

HGVS (amino-acid)	Matching Registered Transcripts
NP_478054.2:p.Arg115Gln	CA10071269 NM_058174.3:c.344G>A