ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826156534
Gene: IFT80
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000515810
ClinVar Variation:
446653
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001177170.1:p.Leu384Phe
CA355191342
NM_001190241.2:c.1150C>T