ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658674069
Gene: IFT140
HGNC
NCBI
Linked Data
ClinVar Variation Id:
446314
ClinVar RCV Id:
RCV000515606
RCV001073305
RCV001857877
RCV002490876
RCV002282196
RCV003326447
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055529.2:p.Thr484Met
CA7814278
NM_014714.4:c.1451C>T