ClinGen Allele Registry
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Canonical Allele Identifier:
PA098960
Gene: IFT172
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000083268
RCV001228000
RCV001723662
RCV002483157
ClinVar Variation:
97022
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056477.1:p.Cys1727Arg
CA149722
NM_015662.3:c.5179T>C