Canonical Allele Identifier: PA2827681213
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 409982
ClinVar RCV Id: RCV000457167 RCV001256954 RCV001764429 RCV002379466
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339706.1:p.Arg320His
CA8565329
NM_001352777.2:c.959G>A