Canonical Allele Identifier: PA2829368931
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 1405334
ClinVar RCV Id: RCV001903725
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002221.1:p.His515Arg
CA399493998
NM_002230.4:c.1544A>G