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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
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Canonical Allele Identifier:
CA1267947258
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.88016071_88016105delinsGATGCAGTGAGTAAGCCAGGATCGCACTATCTCAA , CM000664.2:g.88016071_88016105delinsGATGCAGTGAGTAAGCCAGGATCGCACTATCTCAA
GRCh38
NC_000002.11:g.88315590_88315624delinsGATGCAGTGAGTAAGCCAGGATCGCACTATCTCAA , CM000664.1:g.88315590_88315624delinsGATGCAGTGAGTAAGCCAGGATCGCACTATCTCAA
GRCh37
NC_000002.10:g.88096705_88096739delinsGATGCAGTGAGTAAGCCAGGATCGCACTATCTCAA
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_940335.3:n.416_450delinsGATGCAGTGAGTAAGCCAGGATCGCACTATCTCAA
XR_940336.3:n.416_450delinsGATGCAGTGAGTAAGCCAGGATCGCACTATCTCAA
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