ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830424345
Gene: OTOF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1049392
ClinVar RCV Id:
RCV001355429
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_919304.1:p.Val16Ile
CA1563978
NM_194323.3:c.46G>A