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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:
PA2825186365
Gene: OTC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3070037
ClinVar RCV Id:
RCV004010069
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000522.3:p.Ser267Asn
CA412723062
NM_000531.6:c.800G>A