ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826821133
Gene: OTOG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
517609
ClinVar RCV Id:
RCV000614361
RCV001796141
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278992.1:p.Pro124Leu
CA5905342
NM_001292063.2:c.371C>T