Canonical Allele Identifier: PA2827679747
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 468746
ClinVar RCV Id: RCV000532535

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339704.1:p.Arg572Trp
CA8565146
NM_001352775.2:c.1714C>T