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: JPH2 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_006723895.1:p.Lys250Asn	CA409093751 XM_006723832.2:c.750G>T CA409093752 XM_006723832.2:c.750G>C