Canonical Allele Identifier: PA2827678503
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 536636
ClinVar RCV Id: RCV000645214 RCV001124845 RCV001124844 RCV003303043
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339703.1:p.Val232Ile
CA8565412
NM_001352774.2:c.694G>A