Canonical Allele Identifier: PA2827679680
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 1061383
ClinVar RCV Id: RCV001370955

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339704.1:p.Ala516Thr
CA399493970
NM_001352775.2:c.1546G>A