Allele Registry

Canonical Allele Identifier: PA2827680857

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000556038

RCV002358543

ClinVar Variation:

468744

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339706.1:p.Ser39del	CA8565579 NM_001352777.2:c.116_118del