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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:
CA2809162085
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.30237147_30237312del , CM000679.2:g.30237147_30237312del
GRCh38
NC_000017.10:g.28564165_28564330del , CM000679.1:g.28564165_28564330del
GRCh37
NC_000017.9:g.25588291_25588456del
NCBI36
NG_011747.2:g.3628_3793del
Transcript Alleles
HGVS
Amino-acid change
XR_934654.1:n.165+77_165+242del
XR_001752824.1:n.280+77_280+242del
Search 100 bp 5'
Search 100 bp 3'