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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:
CA2470824117
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.17086405_17086406delinsGT , CM000686.2:g.17086405_17086406delinsGT
GRCh38
NC_000024.9:g.19198285_19198286delinsGT , CM000686.1:g.19198285_19198286delinsGT
GRCh37
NC_000024.8:g.17707679_17707680delinsGT
NCBI36
Search 100 bp 5'
Search 100 bp 3'