Allele Registry

Canonical Allele Identifier: PA2827679744

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000039068

RCV001241393

ClinVar Variation:

45839

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339704.1:p.Ala571Ser	CA137151 NM_001352775.2:c.1711G>T