Canonical Allele Identifier: PA2827678138
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 392309
ClinVar RCV Id: RCV000443545 RCV000620043 RCV002480325
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339702.1:p.Pro677Leu
CA8565047
NM_001352773.2:c.2030C>T