ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829663389
Gene: IFT27
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000968422
ClinVar Variation:
786380
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006851.1:p.Ala141Val
CA10212348
NM_006860.5:c.422C>T