Allele Registry

Canonical Allele Identifier: PA1139739403

Gene: JPH2 HGNC NCBI

ClinVar Allele:

951099

ClinVar RCV:

RCV001226543

RCV001773512

ClinVar Variation:

954139

HGVS (amino-acid)	Matching Registered Transcripts
NP_065166.2:p.Pro424Leu	CA9868690 NM_020433.5:c.1271C>T