Allele Registry

Canonical Allele Identifier: PA137182

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000020467

RCV000039075

RCV000251926

RCV000351947

RCV001513998

RCV001811192

RCV003125833

ClinVar Variation:

21304

HGVS (amino-acid)	Matching Registered Transcripts
NP_068831.1:p.Met697Leu	CA137178 NM_021991.4:c.2089A>T CA399490809 NM_021991.4:c.2089A>C