ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826128171
Gene: IFT27
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000968422
ClinVar Variation:
786380
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171172.1:p.Ala142Val
CA10212348
NM_001177701.3:c.425C>T