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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:
CA2216867318
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.31099668_31099669delinsTG , CM000678.2:g.31099668_31099669delinsTG
GRCh38
NC_000016.9:g.31110989_31110990delinsTG , CM000678.1:g.31110989_31110990delinsTG
GRCh37
NC_000016.8:g.31018490_31018491delinsTG
NCBI36
NG_011564.1:g.287_288delinsCA
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