Allele Registry

Canonical Allele Identifier: PA2827678878

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000039068

RCV001241393

ClinVar Variation:

45839

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339703.1:p.Ala571Ser	CA137151 NM_001352774.2:c.1711G>T