Canonical Allele Identifier: PA2827680467
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 191671
ClinVar RCV Id: RCV000171958 RCV000618640 RCV001072022 RCV001124751 RCV001124750 RCV001824660
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339705.1:p.Ile442Phe
CA237210
NM_001352776.2:c.1324A>T