Canonical Allele Identifier: PA2827679825
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 323165
ClinVar RCV Id: RCV000262154 RCV000355139 RCV001046526 RCV001764292 RCV002411219 RCV002282119
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339704.1:p.Asn638His
CA8565090
NM_001352775.2:c.1912A>C