Allele Registry

Canonical Allele Identifier: PA2827680800

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV001232198

RCV001760237

RCV002429990

ClinVar Variation:

958935

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339705.1:p.Ser730Asn	CA8564991 NM_001352776.2:c.2189G>A