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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:
PA2829570862
Gene: OTOF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65809
ClinVar RCV Id:
RCV000056049
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004793.2:p.Phe1028Cys
CA345136
NM_004802.4:c.3083T>G