Allele Registry

Canonical Allele Identifier: PA1139749326

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV001232198

RCV001760237

RCV002429990

ClinVar Variation:

958935

HGVS (amino-acid)	Matching Registered Transcripts
NP_068831.1:p.Ser730Asn	CA8564991 NM_021991.4:c.2189G>A