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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
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Canonical Allele Identifier:
CA2255111858
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.30237175_30237176delinsTG , CM000679.2:g.30237175_30237176delinsTG
GRCh38
NC_000017.10:g.28564193_28564194delinsTG , CM000679.1:g.28564193_28564194delinsTG
GRCh37
NC_000017.9:g.25588319_25588320delinsTG
NCBI36
NG_011747.2:g.3761_3762delinsCA
Transcript Alleles
HGVS
Amino-acid change
XR_934654.1:n.165+105_165+106delinsTG
XR_001752824.1:n.280+105_280+106delinsTG
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