ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645375982
Gene: IFT43
HGNC
NCBI
Linked Data
ClinVar Variation Id:
314467
ClinVar RCV Id:
RCV001352434
RCV002487391
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443105.2:p.Ala31Val
CA7280635
NM_052873.3:c.92C>T