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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:
CA2255111955
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.30237279_30237299delinsGGATGCTGGGGGTGCAGGGGA , CM000679.2:g.30237279_30237299delinsGGATGCTGGGGGTGCAGGGGA
GRCh38
NC_000017.10:g.28564297_28564317delinsGGATGCTGGGGGTGCAGGGGA , CM000679.1:g.28564297_28564317delinsGGATGCTGGGGGTGCAGGGGA
GRCh37
NC_000017.9:g.25588423_25588443delinsGGATGCTGGGGGTGCAGGGGA
NCBI36
NG_011747.2:g.3638_3658delinsTCCCCTGCACCCCCAGCATCC
Transcript Alleles
HGVS
Amino-acid change
XR_934654.1:n.165+209_165+229delinsGGATGCTGGGGGTGCAGGGGA
XR_001752824.1:n.280+209_280+229delinsGGATGCTGGGGGTGCAGGGGA
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