Allele Registry

Canonical Allele Identifier: PA2573094090

Gene: JPH2 HGNC NCBI

ClinVar Allele:

1297641

ClinVar RCV:

RCV001772548

ClinVar Variation:

1307693

HGVS (amino-acid)	Matching Registered Transcripts
NP_065166.2:p.Asp425Glu	CA409101684 NM_020433.5:c.1275C>G CA409101685 NM_020433.5:c.1275C>A