Canonical Allele Identifier: PA2827681340
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 45833
ClinVar RCV Id: RCV000039062 RCV000533569 RCV003162344
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339706.1:p.Arg444His
CA137129
NM_001352777.2:c.1331G>A