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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:
PA224588
Gene: OTC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
97191
ClinVar RCV Id:
RCV000083426
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000522.3:p.Ala135Glu
CA224587
NM_000531.6:c.404C>A