Allele Registry

Canonical Allele Identifier: PA3057660995

Gene: JPH2 HGNC NCBI

ClinVar Allele:

3969451

ClinVar RCV:

RCV005358796

ClinVar Variation:

3862294

HGVS (amino-acid)	Matching Registered Transcripts
NP_065166.2:p.Gln428Lys	CA409101666 NM_020433.5:c.1282C>A