ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830132601
Gene: IFT122
HGNC
NCBI
Linked Data
ClinVar Variation Id:
343242
ClinVar RCV Id:
RCV000294078
RCV002298575
RCV002520080
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443715.1:p.Arg518His
CA2606218
NM_052989.3:c.1553G>A