ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830133065
Gene: IFT122
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
19675
ClinVar RCV:
RCV000004899
ClinVar Variation:
4636
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443716.1:p.Ser211Phe
CA340276
NM_052990.3:c.632C>T