Canonical Allele Identifier: PA2829368188
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 1041954
ClinVar RCV Id: RCV001345839
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002221.1:p.Thr111Ile
CA8565521
NM_002230.4:c.332C>T