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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:
PA122704
Gene: SOD3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12777
ClinVar RCV Id:
RCV000013615
RCV003924831
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003093.2:p.Arg231Gly
CA122703
NM_003102.4:c.691C>G