Allele Registry

Canonical Allele Identifier: PA2830145178

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000234678

RCV000726452

RCV002517430

ClinVar Variation:

224687

HGVS (amino-acid)	Matching Registered Transcripts
NP_476505.3:p.Arg333Cys	CA2189454 NM_057164.5:c.997C>T