Canonical Allele Identifier: PA2827679167
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 1427673
ClinVar Variation Id: 1786091
ClinVar RCV Id: RCV002417468

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339704.1:p.Asp71Tyr
CA8565549
NM_001352775.2:c.211G>T
CA2580093935
NM_001352775.2:c.211_213delinsTAC