Allele Registry

Canonical Allele Identifier: PA308440

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000183480

RCV000700883

ClinVar Variation:

201806

HGVS (amino-acid)	Matching Registered Transcripts
NP_068831.1:p.Ser24Leu	CA308436 NM_021991.4:c.71C>T