ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829903409
Gene: IFT122
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060732.2:p.Ala270Val
CA2606035
NM_018262.4:c.809C>T