Canonical Allele Identifier: PA2827681412
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 2222075
ClinVar RCV Id: RCV003777631 RCV004086129
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339706.1:p.Pro512Ala
CA399494054
NM_001352777.2:c.1534C>G