ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827472943
Gene: IFT74
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000515865
ClinVar Variation:
446684
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336857.1:p.Gly352Cys
CA5015490
NM_001349928.2:c.1054G>T