Canonical Allele Identifier: PA2829368253
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 1379750
ClinVar RCV Id: RCV001892069 RCV003487013
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002221.1:p.Ala162Val
CA8565460
NM_002230.4:c.485C>T