Allele Registry

Canonical Allele Identifier: PA2827679241

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV001196952

RCV001343964

RCV003318396

ClinVar Variation:

930937

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339704.1:p.Asp136Asn	CA8565505 NM_001352775.2:c.406G>A