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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:
CA2500480196
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.19448495_19448496insGGGTAAGAA , CM000686.2:g.19448495_19448496insGGGTAAGAA
GRCh38
NC_000024.9:g.21610381_21610382insGGGTAAGAA , CM000686.1:g.21610381_21610382insGGGTAAGAA
GRCh37
NC_000024.8:g.20069769_20069770insGGGTAAGAA
NCBI36
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