Canonical Allele Identifier: PA2829369063
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 536633
ClinVar RCV Id: RCV000645210 RCV002397246
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002221.1:p.Arg572Gln
CA8565145
NM_002230.4:c.1715G>A