Canonical Allele Identifier: PA354543
Gene: JPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 218769
ClinVar RCV Id: RCV000202687 RCV001853272
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065166.2:p.Ser171_Asn172dup
CA248886
NM_020433.5:c.511_516dup