Canonical Allele Identifier: PA2827680139
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 1450398
ClinVar RCV Id: RCV002004836 RCV002334966
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339705.1:p.Ala162Ser
CA399503612
NM_001352776.2:c.484G>T