Canonical Allele Identifier: PA2827680489
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 426584
ClinVar RCV Id: RCV000489721 RCV000546052 RCV000621825
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339705.1:p.Ala458Thr
CA8565223
NM_001352776.2:c.1372G>A