Canonical Allele Identifier: PA2829369329
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 948169
ClinVar RCV Id: RCV001219374

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002221.1:p.Pro735Arg
CA399490323
NM_002230.4:c.2204C>G