Canonical Allele Identifier: PA658673046
Gene: JPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 454467
ClinVar RCV Id: RCV000536836 RCV000617750 RCV000786323 RCV000612537
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065166.2:p.Ala405Thr
CA9868698
NM_020433.5:c.1213G>A