Allele Registry

Canonical Allele Identifier: PA2573308582

Gene: JPH2 HGNC NCBI

ClinVar RCV:

RCV001918379

RCV002441016

RCV002478351

ClinVar Variation:

1407323

HGVS (amino-acid)	Matching Registered Transcripts
NP_787109.2:p.Arg93Cys	CA9868900 NM_175913.4:c.277C>T