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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:
CA1953143838
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.13107516_13107517delinsCT , CM000673.2:g.13107516_13107517delinsCT
GRCh38
NC_000011.9:g.13129063_13129064delinsCT , CM000673.1:g.13129063_13129064delinsCT
GRCh37
NC_000011.8:g.13085639_13085640delinsCT
NCBI36
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