ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830133510
Gene: IFT122
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195780
ClinVar RCV Id:
RCV000194823
RCV000724440
RCV001086963
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443716.1:p.Tyr806Asp
CA209252
NM_052990.3:c.2416T>G