ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139735202
Gene: IFT172
HGNC
NCBI
Linked Data
ClinVar Variation Id:
966074
ClinVar RCV Id:
RCV001240662
RCV001595073
RCV001819939
RCV002491796
RCV004548093
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056477.1:p.Arg300Gln
CA1580840
NM_015662.3:c.899G>A