Canonical Allele Identifier: PA2827680174
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 45853
ClinVar RCV Id: RCV000039084 RCV001058398 RCV002345304 RCV003234936
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339705.1:p.Ser182Leu
CA137223
NM_001352776.2:c.545C>T