ClinGen Allele Registry
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Canonical Allele Identifier:
PA645465513
Gene: IFT140
HGNC
NCBI
Linked Data
ClinVar Variation Id:
318004
ClinVar RCV Id:
RCV000362113
RCV001252753
RCV002494995
RCV003888738
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055529.2:p.Arg1201His
CA7813098
NM_014714.4:c.3602G>A