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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:
PA102841
Gene: OTC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
97195
ClinVar RCV Id:
RCV000083430
RCV003509490
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000522.3:p.Leu139Ser
CA224594
NM_000531.6:c.416T>C