Canonical Allele Identifier: PA645465022
Gene: JPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 403849
ClinVar RCV Id: RCV000466072 RCV001577972 RCV002393074
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065166.2:p.Ala553Val
CA9868646
NM_020433.5:c.1658C>T