ClinGen Allele Registry
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Canonical Allele Identifier:
PA262048
Gene: OTOF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
57422
ClinVar RCV:
RCV000041570
RCV000757590
RCV000779323
ClinVar Variation:
48258
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_919224.1:p.Val1778Phe
CA262047
NM_194248.3:c.5332G>T