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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:
CA1490351039
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.122589790_122589792delinsGAC , CM000666.2:g.122589790_122589792delinsGAC
GRCh38
NC_000004.11:g.123510945_123510947delinsGAC , CM000666.1:g.123510945_123510947delinsGAC
GRCh37
NC_000004.10:g.123730395_123730397delinsGAC
NCBI36
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