Canonical Allele Identifier: PA176377
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 163710
ClinVar RCV Id: RCV000227308 RCV000150847 RCV001125575 RCV001125576 RCV000208373 RCV002415637 RCV002221461 RCV003149917
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002221.1:p.Asn690Ser
CA176374
NM_002230.4:c.2069A>G