ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827679474
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000457167
RCV001256954
RCV001764429
RCV002379466
ClinVar Variation:
409982
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339704.1:p.Arg320His
CA8565329
NM_001352775.2:c.959G>A