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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:
CA2568726251
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.7145569_7145571dup , CM000686.2:g.7145569_7145571dup
GRCh38
NC_000024.9:g.7013610_7013612dup , CM000686.1:g.7013610_7013612dup
GRCh37
NC_000024.8:g.7073610_7073612dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'