Canonical Allele Identifier: PA105500
Gene: JPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 30456
ClinVar RCV Id: RCV000023409 RCV001256951 RCV001781303 RCV002326683
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065166.2:p.Tyr141His
CA129218
NM_020433.5:c.421T>C