ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573261053
Gene: IFT140
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1401607
ClinVar RCV Id:
RCV001912973
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055529.2:p.Ile1166Thr
CA394225028
NM_014714.4:c.3497T>C