Canonical Allele Identifier: PA2827681430
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 519401
ClinVar RCV Id: RCV000619833 RCV001049613 RCV001121973 RCV001127758
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339706.1:p.Arg526Cys
CA8565187
NM_001352777.2:c.1576C>T