ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499281804
Gene: IFT172
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1020285
ClinVar RCV Id:
RCV001319841
RCV002543786
RCV004548161
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056477.1:p.Arg1284Gln
CA1579840
NM_015662.3:c.3851G>A