Canonical Allele Identifier: PA2573094090
Gene: JPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1307693
ClinVar RCV Id: RCV001772548

Amino-acid Alleles

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