Canonical Allele Identifier: PA658819811
Gene: JPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 524960
ClinVar RCV Id: RCV000628884 RCV002358752 RCV002499024 RCV003993674
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065166.2:p.Arg197Leu
CA409094078
NM_020433.5:c.590G>T