Allele Registry

Canonical Allele Identifier: PA645460419

Gene: JUP HGNC NCBI

ClinVar Allele:

374961

ClinVar RCV:

RCV000443545

RCV000620043

RCV002480325

ClinVar Variation:

392309

HGVS (amino-acid)	Matching Registered Transcripts
NP_068831.1:p.Pro677Leu	CA8565047 NM_021991.4:c.2030C>T