ClinGen Allele Registry
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Canonical Allele Identifier:
PA150604
Gene: IFT80
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000087065
RCV000474945
RCV000516104
RCV000727148
RCV003103777
ClinVar Variation:
100665
406218
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065851.1:p.Gly241Arg
CA150603
NM_020800.3:c.721G>A
CA2685388
NM_020800.3:c.721G>C