Canonical Allele Identifier: PA2827679722
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 2177943
ClinVar RCV Id: RCV002595331 RCV004068831
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339704.1:p.Gln548Glu
CA8565174
NM_001352775.2:c.1642C>G