ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741944913
Gene: IFT140
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2749032
ClinVar RCV Id:
RCV003531143
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055529.2:p.Arg1403Leu
CA394222533
NM_014714.4:c.4208G>T