Allele Registry

Canonical Allele Identifier: PA2827681547

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000183506

RCV001852358

RCV003298239

ClinVar Variation:

201829

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339706.1:p.Ser627Leu	CA308556 NM_001352777.2:c.1880C>T