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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:
CA2519686699
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.57238085_57238086insGGG , CM000673.2:g.57238085_57238086insGGG
GRCh38
NC_000011.9:g.57005559_57005560insGGG , CM000673.1:g.57005559_57005560insGGG
GRCh37
NC_000011.8:g.56762135_56762136insGGG
NCBI36
Search 100 bp 5'
Search 100 bp 3'