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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:
PA103029
Gene: OTC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
97291
ClinVar RCV Id:
RCV000083535
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000522.3:p.Pro225Arg
CA224740
NM_000531.6:c.674C>G