Allele Registry

Canonical Allele Identifier: PA2830151939

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

208725

848955

ClinVar RCV:

RCV000193638

RCV001060930

ClinVar Variation:

210750

855625

HGVS (amino-acid)	Matching Registered Transcripts
NP_478054.2:p.Gly298Arg	CA207251 NM_058174.3:c.892G>A CA410525346 NM_058174.3:c.892G>C