ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825547772
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_001096034.1:p.Ala31Val
CA7280635
NM_001102564.3:c.92C>T