Canonical Allele Identifier: PA2829369249
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 392309

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002221.1:p.Pro677Leu
CA8565047
NM_002230.4:c.2030C>T