Canonical Allele Identifier: PA2827678019
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 496450
ClinVar RCV Id: RCV000588691

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339702.1:p.Arg577Leu
CA399492914
NM_001352773.2:c.1730G>T