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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:
CA2524884131
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.17029971_17029972insATGTGTGAAGCATGGTGTAAG , CM000686.2:g.17029971_17029972insATGTGTGAAGCATGGTGTAAG
GRCh38
NC_000024.9:g.19141851_19141852insATGTGTGAAGCATGGTGTAAG , CM000686.1:g.19141851_19141852insATGTGTGAAGCATGGTGTAAG
GRCh37
NC_000024.8:g.17651245_17651246insATGTGTGAAGCATGGTGTAAG
NCBI36
Search 100 bp 5'
Search 100 bp 3'