Canonical Allele Identifier: PA2829368138
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 2084166
ClinVar RCV Id: RCV002994569

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002221.1:p.Lys83Arg
CA8565541
NM_002230.4:c.248A>G