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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:
PA2826059092
Gene: SCO2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1709774
ClinVar RCV Id:
RCV002290116
RCV003097786
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001162580.1:p.Arg120Trp
CA10321225
NM_001169109.2:c.358C>T