Canonical Allele Identifier: PA2827680616
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 468746
ClinVar RCV Id: RCV000532535

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339705.1:p.Arg572Trp
CA8565146
NM_001352776.2:c.1714C>T