ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658674068
Gene: IFT140
HGNC
NCBI
Linked Data
ClinVar Variation Id:
446313
ClinVar RCV Id:
RCV000515582
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055529.2:p.Cys329Arg
CA394216724
NM_014714.4:c.985T>C