Allele Registry

Canonical Allele Identifier: PA2827679216

Gene: JUP HGNC NCBI

ClinVar Allele:

189974

ClinVar RCV:

RCV000171965

RCV001067921

ClinVar Variation:

191677

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339704.1:p.Asn112Ser	CA237240 NM_001352775.2:c.335A>G