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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:
CA2043572057
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.67643291_67643292delinsTG , CM000674.2:g.67643291_67643292delinsTG
GRCh38
NC_000012.11:g.68037071_68037072delinsTG , CM000674.1:g.68037071_68037072delinsTG
GRCh37
NC_000012.10:g.66323338_66323339delinsTG
NCBI36
Search 100 bp 5'
Search 100 bp 3'