ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA345133
Gene: OTOF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
48253
ClinVar RCV Id:
RCV000056047
RCV000211734
RCV000413616
RCV002228134
RCV003984816
RCV004017335
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_919224.1:p.Glu1700Gln
CA345132
NM_194248.3:c.5098G>C