Canonical Allele Identifier: PA2827679475
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 201833
ClinVar RCV Id: RCV000183511 RCV001085979 RCV003225037 RCV004020221
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339704.1:p.Arg320Cys
CA308576
NM_001352775.2:c.958C>T