Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: HGD HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000283871.5:p.Thr118Ser	CA354078140 ENST00000283871.9:c.353C>G CA354078142 ENST00000283871.9:c.352A>T