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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:
CA2470824112
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.17086356_17086357delinsGA , CM000686.2:g.17086356_17086357delinsGA
GRCh38
NC_000024.9:g.19198236_19198237delinsGA , CM000686.1:g.19198236_19198237delinsGA
GRCh37
NC_000024.8:g.17707630_17707631delinsGA
NCBI36
Search 100 bp 5'
Search 100 bp 3'