Allele Registry

Canonical Allele Identifier: PA2830151914

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000269898

RCV000816890

RCV001091898

RCV003764603

ClinVar Variation:

17167

871767

HGVS (amino-acid)	Matching Registered Transcripts
NP_478054.2:p.Gly283Arg	CA127112 NM_058174.3:c.847G>A CA410524878 NM_058174.3:c.847G>C