Canonical Allele Identifier: PA2827680578
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 571627
ClinVar RCV Id: RCV000692822 RCV001771959 RCV003380681
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339705.1:p.Arg540Cys
CA8565182
NM_001352776.2:c.1618C>T