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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:
CA2809162108
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.30237194_30237200del , CM000679.2:g.30237194_30237200del
GRCh38
NC_000017.10:g.28564212_28564218del , CM000679.1:g.28564212_28564218del
GRCh37
NC_000017.9:g.25588338_25588344del
NCBI36
NG_011747.2:g.3737_3743del
Transcript Alleles
HGVS
Amino-acid Change
XR_934654.1:n.165+124_165+130del
XR_001752824.1:n.280+124_280+130del
Search 100 bp 5'
Search 100 bp 3'