ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915996859
Gene: IFT80
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000515954
ClinVar Variation:
446654
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001177171.1:p.Ile54Asn
CA2685433
NM_001190242.2:c.161T>A