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

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065166.2:p.Lys250Asn
CA409093751
NM_020433.5:c.750G>T
CA409093752
NM_020433.5:c.750G>C