ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830424469
Gene: OTOF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_919304.1:p.Ala217Val
CA1563731
NM_194323.3:c.650C>T