ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827678841
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
917779
ClinVar RCV Id:
RCV001175006
RCV001215662
RCV004032982
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339703.1:p.Arg540His
CA8565181
NM_001352774.2:c.1619G>A