ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830424179
Gene: OTOF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
48258
ClinVar RCV Id:
RCV000041570
RCV000757590
RCV000779323
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_919303.1:p.Val1088Phe
CA262047
NM_194322.3:c.3262G>T