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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:
CA2272898013
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.69961533_69961534delinsGT , CM000679.2:g.69961533_69961534delinsGT
GRCh38
NC_000017.10:g.67957674_67957675delinsGT , CM000679.1:g.67957674_67957675delinsGT
GRCh37
NC_000017.9:g.65469269_65469270delinsGT
NCBI36
Search 100 bp 5'
Search 100 bp 3'