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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:
CA2222060378
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.51124735_51124740delinsACGAGG , CM000678.2:g.51124735_51124740delinsACGAGG
GRCh38
NC_000016.9:g.51158646_51158651delinsACGAGG , CM000678.1:g.51158646_51158651delinsACGAGG
GRCh37
NC_000016.8:g.49716147_49716152delinsACGAGG
NCBI36
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Search 100 bp 3'