Canonical Allele Identifier: PA2829369039
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 2448239
ClinVar RCV Id: RCV003181552

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002221.1:p.Val560Met
CA399493194
NM_002230.4:c.1678G>A