Canonical Allele Identifier: PA2829368924
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 2537052
ClinVar RCV Id: RCV004313087
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002221.1:p.Leu510Val
CA8565190
NM_002230.4:c.1528C>G