Canonical Allele Identifier: PA2827679239
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 640516
ClinVar RCV Id: RCV000793558
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339704.1:p.Asp135His
CA399505033
NM_001352775.2:c.403G>C