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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580547913
Gene: OTOF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2360160
ClinVar RCV Id:
RCV002986641
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_919224.1:p.Arg566Gln
CA1564197
NM_194248.3:c.1697G>A