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
NP_002213.5:p.Arg2178Ser	CA351640658 NM_002222.7:c.6534A>C CA351640659 NM_002222.7:c.6534A>T