ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830132282
Gene: IFT122
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443711.2:p.Arg1247Cys
CA2606969
NM_052985.4:c.3739C>T