Canonical Allele Identifier: PA2827680109
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 201810
ClinVar RCV Id: RCV000183484 RCV001056315 RCV004020217
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339705.1:p.Asp136His
CA308456
NM_001352776.2:c.406G>C