ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830424914
Gene: OTOF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000155251
RCV003114303
RCV003313044
ClinVar Variation:
178503
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_919304.1:p.Arg1025Cys
CA182451
NM_194323.3:c.3073C>T