ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830424699
Gene: OTOF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
48230
ClinVar RCV Id:
RCV000041539
RCV000765660
RCV001852849
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_919304.1:p.Asp639Asn
CA142880
NM_194323.3:c.1915G>A