Canonical Allele Identifier: PA645465108
Gene: JPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 430124
ClinVar RCV Id: RCV000493687 RCV002420261 RCV002481570 RCV002527102
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065166.2:p.Lys653del
CA9868557
NM_020433.5:c.1957_1959del