Canonical Allele Identifier: PA645464583
Gene: JPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 228754
ClinVar RCV Id: RCV000214453
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065166.2:p.Leu166Arg
CA10577122
NM_020433.5:c.497T>G