ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829903685
Gene: IFT122
HGNC
NCBI
Linked Data
ClinVar Variation Id:
191184
ClinVar RCV Id:
RCV000171370
RCV003989481
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060732.2:p.Gly513Val
CA236202
NM_018262.4:c.1538G>T