ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830133689
Gene: IFT122
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443716.1:p.Arg1010Gln
CA2606887
NM_052990.3:c.3029G>A