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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:
CA2568046325
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.111634529_111634531del , CM000674.2:g.111634529_111634531del
GRCh38
NC_000012.11:g.112072333_112072335del , CM000674.1:g.112072333_112072335del
GRCh37
NC_000012.10:g.110556716_110556718del
NCBI36
Search 100 bp 5'
Search 100 bp 3'