ClinGen Allele Registry
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Canonical Allele Identifier:
PA916043644
Gene: IFT27
HGNC
NCBI
Linked Data
ClinVar Variation Id:
377288
ClinVar RCV Id:
RCV000443592
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349932.1:p.Arg139Trp
CA10212351
NM_001363003.2:c.415C>T