Allele Registry

Canonical Allele Identifier: PA2827680417

Gene: JUP HGNC NCBI

Linked Data

ClinVar RCV:

RCV000171959

RCV000852719

RCV001085221

RCV001124754

RCV001125740

RCV001706115

RCV002326943

RCV003954999

ClinVar Variation:

191672

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339705.1:p.Ser391Asn	CA237215 NM_001352776.2:c.1172G>A