ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106172
Gene: IFT80
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000001046
RCV002512630
ClinVar Variation:
991
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065851.1:p.Ala701Pro
CA114705
NM_020800.3:c.2101G>C