Canonical Allele Identifier: PA2829369307
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 2414016
ClinVar RCV Id: RCV003106349
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002221.1:p.Met718Val
CA399490538
NM_002230.4:c.2152A>G