Canonical Allele Identifier: PA2827680417
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 191672
ClinVar RCV Id: RCV000171959 RCV000852719 RCV001124754 RCV001125740 RCV001085221 RCV002326943 RCV001706115 RCV003954999
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339705.1:p.Ser391Asn
CA237215
NM_001352776.2:c.1172G>A