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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:
CA2121999086
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.20363641_20363643delinsGAA , CM000676.2:g.20363641_20363643delinsGAA
GRCh38
NC_000014.8:g.20831800_20831802delinsGAA , CM000676.1:g.20831800_20831802delinsGAA
GRCh37
NC_000014.7:g.19901640_19901642delinsGAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'