Canonical Allele Identifier: PA2827678854
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 2177943
ClinVar RCV Id: RCV002595331 RCV004068831
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339703.1:p.Gln548Glu
CA8565174
NM_001352774.2:c.1642C>G