ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826156377
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_001177170.1:p.Gly104Arg
CA150603
NM_001190241.2:c.310G>A
CA2685388
NM_001190241.2:c.310G>C