Canonical Allele Identifier: PA105491
Gene: JPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 30457
ClinVar RCV Id: RCV000023410
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065166.2:p.Ser165Phe
CA129220
NM_020433.5:c.494C>T