ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827679742
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201827
ClinVar RCV Id:
RCV000183503
RCV002399671
RCV002517815
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339704.1:p.Ile569Phe
CA308546
NM_001352775.2:c.1705A>T