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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:
CA2222590434
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.52288014_52288015delinsTC , CM000678.2:g.52288014_52288015delinsTC
GRCh38
NC_000016.9:g.52321926_52321927delinsTC , CM000678.1:g.52321926_52321927delinsTC
GRCh37
NC_000016.8:g.50879427_50879428delinsTC
NCBI36
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Search 100 bp 3'