ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA345121
Gene: OTOF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65801
ClinVar RCV Id:
RCV000056040
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_919224.1:p.Thr1386Ile
CA345120
NM_194248.3:c.4157C>T