ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573192478
Gene: OTOG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1416815
ClinVar RCV Id:
RCV001935907
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264198.1:p.Arg130Cys
CA5905339
NM_001277269.2:c.388C>T