ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098937
Gene: IFT172
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000083270
RCV000201713
RCV002483158
RCV003225027
ClinVar Variation:
97024
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056477.1:p.Arg1544Cys
CA149724
NM_015662.3:c.4630C>T