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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:
CA2240010126
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.86677111_86677112delinsGA , CM000678.2:g.86677111_86677112delinsGA
GRCh38
NC_000016.9:g.86710717_86710718delinsGA , CM000678.1:g.86710717_86710718delinsGA
GRCh37
NC_000016.8:g.85268218_85268219delinsGA
NCBI36
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