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: ITPR1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000349597.4:p.Phe250Leu	CA351636523 ENST00000357086.9:c.748T>C CA351636535 ENST00000357086.9:c.750T>A CA351636538 ENST00000357086.9:c.750T>G