ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573300755
Gene: IFT122
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443711.2:p.Ala380Val
CA2606035
NM_052985.4:c.1139C>T