Allele Registry

Canonical Allele Identifier: PA2829369319

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV002051454

ClinVar Variation:

1350989

HGVS (amino-acid)	Matching Registered Transcripts
NP_002221.1:p.Tyr729Asn	CA399490384 NM_002230.4:c.2185T>A