Canonical Allele Identifier: PA2827681240
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 234601
ClinVar RCV Id: RCV000221503 RCV000810541 RCV002390589
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339706.1:p.Ala347Thr
CA8565314
NM_001352777.2:c.1039G>A