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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:
CA1191811893
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.118341374_118341384delinsGATGTGGGGAC , CM000663.2:g.118341374_118341384delinsGATGTGGGGAC
GRCh38
NC_000001.10:g.118883997_118884007delinsGATGTGGGGAC , CM000663.1:g.118883997_118884007delinsGATGTGGGGAC
GRCh37
NC_000001.9:g.118685520_118685530delinsGATGTGGGGAC
NCBI36
Search 100 bp 5'
Search 100 bp 3'