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.Phe227Leu	CA354075438 ENST00000283871.9:c.681C>G CA354075441 ENST00000283871.9:c.681C>A CA354075461 ENST00000283871.9:c.679T>C