ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA117971
Gene: OTOF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_919304.1:p.Pro1220Arg
NM_194323.3:c.3659C>G