Canonical Allele Identifier: PA2827678397
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 263731
ClinVar RCV Id: RCV000249943 RCV001036469 RCV001127939 RCV001127940
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339703.1:p.Pro156Leu
CA8565489
NM_001352774.2:c.467C>T