Canonical Allele Identifier: PA2829369283
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 1490142
ClinVar RCV Id: RCV001983604

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002221.1:p.Met704Ile
CA399490728
NM_002230.4:c.2112G>C
CA399490729
NM_002230.4:c.2112G>A
CA399490730
NM_002230.4:c.2112G>T