ClinGen Allele Registry
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Canonical Allele Identifier:
PA181278
Gene: JUP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
178216
ClinVar RCV:
RCV000154729
RCV000621366
RCV000702831
RCV002243826
ClinVar Variation:
178044
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068831.1:p.Arg177Gln
CA181274
NM_021991.4:c.530G>A