Canonical Allele Identifier: PA2827679291
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 191675
ClinVar RCV Id: RCV000171963 RCV000208296 RCV000244325 RCV000466475 RCV000499623 RCV001198755
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339704.1:p.Arg176Trp
CA237230
NM_001352775.2:c.526C>T