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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:
PA2826696168
Gene: OTOF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6143
ClinVar RCV Id:
RCV000006517
RCV000021035
RCV000604852
RCV003555942
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274418.1:p.Ile515Thr
CA117973
NM_001287489.2:c.1544T>C