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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:
CA2063083680
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.110948335_110948336delinsAG , CM000674.2:g.110948335_110948336delinsAG
GRCh38
NC_000012.11:g.111386139_111386140delinsAG , CM000674.1:g.111386139_111386140delinsAG
GRCh37
NC_000012.10:g.109870522_109870523delinsAG
NCBI36
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