Canonical Allele Identifier: PA2829368194
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 1395108
ClinVar RCV Id: RCV001884963
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002221.1:p.Arg115Gln
CA8565518
NM_002230.4:c.344G>A