Allele Registry

Canonical Allele Identifier: PA2827679348

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV002368966

RCV003776241

ClinVar Variation:

1752992

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339704.1:p.Leu212Val	CA8565428 NM_001352775.2:c.634C>G