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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:
CA1035116012
Gene:
Linked Data
gnomAD v3:
2-112837287-C-CGTA
gnomAD v4:
2-112837287-C-CGTA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.112837287_112837288insGTA , CM000664.2:g.112837287_112837288insGTA
GRCh38
NC_000002.11:g.113594864_113594865insGTA , CM000664.1:g.113594864_113594865insGTA
GRCh37
NC_000002.10:g.113311335_113311336insGTA
NCBI36
NG_008851.1:g.4492_4493insTAC
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