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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:
PA2826059377
Gene: SCO2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2056514
ClinVar RCV Id:
RCV002938596
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001162581.1:p.Arg120Gly
CA412192981
NM_001169110.1:c.358C>G