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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:
CA2549793434
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.24231027del , CM000673.2:g.24231027del
GRCh38
NC_000011.9:g.24252573del , CM000673.1:g.24252573del
GRCh37
NC_000011.8:g.24209149del
NCBI36
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