Allele Registry

Canonical Allele Identifier: PA2827679779

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV001038552

RCV001197490

RCV002409378

ClinVar Variation:

837260

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339704.1:p.Arg602His	CA290695704 NM_001352775.2:c.1805G>A