Allele Registry

Canonical Allele Identifier: PA2827679242

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000183484

RCV001056315

RCV004020217

ClinVar Variation:

201810

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339704.1:p.Asp136His	CA308456 NM_001352775.2:c.406G>C