ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828074883
Gene: IFT27
HGNC
NCBI
Linked Data
ClinVar Variation Id:
140462
ClinVar RCV Id:
RCV000128641
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349932.1:p.Cys100Tyr
CA163415
NM_001363003.2:c.299G>A