ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645460433
Gene: IFT122
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282987
ClinVar RCV Id:
RCV000400100
RCV002480008
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443711.2:p.Val77Ile
CA2605752
NM_052985.4:c.229G>A