Allele Registry

Canonical Allele Identifier: PA2827679505

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000221503

RCV000810541

RCV002390589

ClinVar Variation:

234601

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339704.1:p.Ala347Thr	CA8565314 NM_001352775.2:c.1039G>A