ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830132521
Gene: IFT122
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443715.1:p.Ala329Val
CA2606035
NM_052989.3:c.986C>T