Canonical Allele Identifier: PA645460111
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_068831.1:p.Ala174Val
CA10587905
NM_021991.4:c.521C>T