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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:
CA2063083730
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.110948377_110948379delinsCAA , CM000674.2:g.110948377_110948379delinsCAA
GRCh38
NC_000012.11:g.111386181_111386183delinsCAA , CM000674.1:g.111386181_111386183delinsCAA
GRCh37
NC_000012.10:g.109870564_109870566delinsCAA
NCBI36
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