Allele Registry

Canonical Allele Identifier: PA2827679932

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV001232198

RCV001760237

RCV002429990

ClinVar Variation:

958935

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339704.1:p.Ser730Asn	CA8564991 NM_001352775.2:c.2189G>A