ClinGen Allele Registry
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Canonical Allele Identifier:
PA645465468
Gene: IFT140
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282935
ClinVar RCV Id:
RCV000364470
RCV000378415
RCV001795480
RCV003930070
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055529.2:p.Arg253Gln
CA7814585
NM_014714.4:c.758G>A