ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645465466
Gene: IFT140
HGNC
NCBI
Linked Data
ClinVar Variation Id:
318207
ClinVar RCV Id:
RCV000301773
RCV002522825
RCV002494999
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055529.2:p.Ala229Thr
CA7814606
NM_014714.4:c.685G>A