Canonical Allele Identifier: PA2827679099
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 1756553
ClinVar RCV Id: RCV002364737

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339704.1:p.Asp23Glu
CA399507118
NM_001352775.2:c.69C>G
CA399507120
NM_001352775.2:c.69C>A