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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:
CA2559872339
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.17086368dup , CM000686.2:g.17086368dup
GRCh38
NC_000024.9:g.19198248dup , CM000686.1:g.19198248dup
GRCh37
NC_000024.8:g.17707642dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'