Canonical Allele Identifier: PA2827679761
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 930073
ClinVar RCV Id: RCV001195494 RCV001324254 RCV003163495
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339704.1:p.Arg582Trp
CA8565142
NM_001352775.2:c.1744C>T