ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3083289380
Gene: IFT140
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055529.2:p.Pro726Ser
CA394203216
NM_014714.4:c.2176C>T