ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829903239
Gene: IFT122
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060732.2:p.Ser72Ala
CA2605748
NM_018262.4:c.214T>G