ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830423788
Gene: OTOF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
229083
ClinVar RCV Id:
RCV000217325
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_919303.1:p.Val73Phe
CA1563979
NM_194322.3:c.217G>T