Canonical Allele Identifier: PA2829369310
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 2574017
ClinVar RCV Id: RCV003318446

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002221.1:p.Met718Ile
CA399490524
NM_002230.4:c.2154G>T
CA399490526
NM_002230.4:c.2154G>C
CA399490530
NM_002230.4:c.2154G>A