Allele Registry

Canonical Allele Identifier: PA2829368050

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000556038

RCV002358543

ClinVar Variation:

468744

HGVS (amino-acid)	Matching Registered Transcripts
NP_002221.1:p.Ser39del	CA8565579 NM_002230.4:c.116_118del