Canonical Allele Identifier: PA2827680432
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 409988
ClinVar RCV Id: RCV000468384 RCV002365645 RCV002526424
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339705.1:p.Leu408Phe
CA8565250
NM_001352776.2:c.1222C>T