Canonical Allele Identifier: PA2827679385
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 1329046
ClinVar RCV Id: RCV001797937

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339704.1:p.Ala246Asp
CA399501626
NM_001352775.2:c.737C>A