Canonical Allele Identifier: PA2829369338
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 2180470
ClinVar RCV Id: RCV002602839
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002221.1:p.Ala740Val
CA399490252
NM_002230.4:c.2219C>T