Canonical Allele Identifier: PA2827679287
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 264367
ClinVar RCV Id: RCV000247465 RCV001205869
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339704.1:p.Ala174Val
CA10587905
NM_001352775.2:c.521C>T