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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:
CA2809162078
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.30237122_30237252del , CM000679.2:g.30237122_30237252del
GRCh38
NC_000017.10:g.28564140_28564270del , CM000679.1:g.28564140_28564270del
GRCh37
NC_000017.9:g.25588266_25588396del
NCBI36
NG_011747.2:g.3691_3821del
Transcript Alleles
HGVS
Amino-acid Change
XR_934654.1:n.165+52_165+182del
XR_001752824.1:n.280+52_280+182del
Search 100 bp 5'
Search 100 bp 3'