Canonical Allele Identifier: PA237233
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 191675
ClinVar RCV Id: RCV000171963 RCV000208296 RCV000244325 RCV000466475 RCV000499623 RCV001198755
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002221.1:p.Arg176Trp
CA237230
NM_002230.4:c.526C>T