Allele Registry

Canonical Allele Identifier: PA2827679873

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000443545

RCV000620043

RCV002480325

ClinVar Variation:

392309

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339704.1:p.Pro677Leu	CA8565047 NM_001352775.2:c.2030C>T