Canonical Allele Identifier: PA658819827
Gene: JPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 524952
ClinVar RCV Id: RCV000628869 RCV001756036
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065166.2:p.Ser392Asn
CA9868707
NM_020433.5:c.1175G>A