ClinGen Allele Registry
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Canonical Allele Identifier:
PA916051667
Gene: IFT122
HGNC
NCBI
Linked Data
ClinVar Variation Id:
343231
ClinVar RCV Id:
RCV000399027
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443715.1:p.Ser72Ala
CA2605748
NM_052989.3:c.214T>G