Allele Registry

Canonical Allele Identifier: PA2830152531

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000367936

RCV000557776

ClinVar Variation:

286579

HGVS (amino-acid)	Matching Registered Transcripts
NP_478054.2:p.Ala776Thr	CA10072520 NM_058174.3:c.2326G>A