Allele Registry

Canonical Allele Identifier: PA2829368867

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV003815578

ClinVar Variation:

2952427

HGVS (amino-acid)	Matching Registered Transcripts
NP_002221.1:p.Leu478Phe	CA399496397 NM_002230.4:c.1432C>T