Allele Registry

Canonical Allele Identifier: PA2573280811

Gene: JUP HGNC NCBI

ClinVar Allele:

1500337

ClinVar RCV:

RCV001938115

ClinVar Variation:

1408671

HGVS (amino-acid)	Matching Registered Transcripts
NP_068831.1:p.Thr700Ile	CA399490769 NM_021991.4:c.2099C>T