ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA340277
Gene: IFT122
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4636
ClinVar RCV Id:
RCV000004899
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443711.2:p.Ser373Phe
CA340276
NM_052985.4:c.1118C>T