ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829368147
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
392175
ClinVar RCV Id:
RCV000425824
RCV000645206
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002221.1:p.Arg86Gln
CA8565535
NM_002230.4:c.257G>A