Canonical Allele Identifier: PA2827679095
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 179756
ClinVar RCV Id: RCV000156554 RCV000253975 RCV000315534 RCV000393399 RCV000656851 RCV000692565 RCV001375636
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339704.1:p.Thr19Ile
CA185075
NM_001352775.2:c.56C>T