Allele Registry

Canonical Allele Identifier: PA2827681644

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000535229

RCV001764577

ClinVar Variation:

468749

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339706.1:p.Pro710Ser	CA8565002 NM_001352777.2:c.2128C>T