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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:
CA2434826994
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.67116839_67116840delinsGC , CM000685.2:g.67116839_67116840delinsGC
GRCh38
NC_000023.10:g.66336681_66336682delinsGC , CM000685.1:g.66336681_66336682delinsGC
GRCh37
NC_000023.9:g.66253406_66253407delinsGC
NCBI36
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