Allele Registry

Canonical Allele Identifier: PA2830151936

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000596159

RCV001379563

ClinVar Variation:

498987

HGVS (amino-acid)	Matching Registered Transcripts
NP_478054.2:p.Gly295Arg	CA410525272 NM_058174.3:c.883G>A CA410525276 NM_058174.3:c.883G>C