Canonical Allele Identifier: PA2827680163
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 201813
ClinVar RCV Id: RCV000183487 RCV001050476 RCV002345642 RCV003955111
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339705.1:p.Arg177Trp
CA308471
NM_001352776.2:c.529C>T