ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826156547
Gene: IFT80
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000336393
RCV001001024
RCV004021897
ClinVar Variation:
343967
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001177170.1:p.Asn423Asp
CA2685070
NM_001190241.2:c.1267A>G