Allele Registry

Canonical Allele Identifier: PA916053597

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000271427

RCV001301975

ClinVar Variation:

288851

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Gly71Arg	CA2189626 NM_057166.5:c.211G>A CA351218097 NM_057166.5:c.211G>C