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
ENSP00000419560.2:p.Ile84Leu	CA354078104 ENST00000476082.2:c.250A>T CA354078105 ENST00000476082.2:c.250A>C