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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:
CA1953352346
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.13552129_13552132delinsGCAC , CM000673.2:g.13552129_13552132delinsGCAC
GRCh38
NC_000011.9:g.13573676_13573679delinsGCAC , CM000673.1:g.13573676_13573679delinsGCAC
GRCh37
NC_000011.8:g.13530252_13530255delinsGCAC
NCBI36
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