ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA344699
Gene: OTOF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_919224.1:p.Ile1573Thr
NM_194248.3:c.4718T>C