ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139740230
Gene: IFT122
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060732.2:p.Ala952Pro
CA2606760
NM_018262.4:c.2854G>C