ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645465515
Gene: IFT140
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_055529.2:p.Ile1248Thr
NM_014714.4:c.3743T>C