ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645490050
Gene: IFT52
HGNC
NCBI
Linked Data
ClinVar Variation Id:
253307
ClinVar RCV Id:
RCV000240373
RCV000755169
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057088.2:p.Ala199Thr
CA10586310
NM_016004.5:c.595G>A