Canonical Allele Identifier: PA2827681497
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 930073
ClinVar RCV Id: RCV001195494 RCV001324254 RCV003163495
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339706.1:p.Arg582Trp
CA8565142
NM_001352777.2:c.1744C>T