ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826619491
Gene: IFT122
HGNC
NCBI
Linked Data
ClinVar Variation Id:
343242
ClinVar RCV Id:
RCV000294078
RCV002298575
RCV002520080
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001267470.1:p.Arg510His
CA2606218
NM_001280541.2:c.1529G>A