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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:
CA2741122848
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.99861094_99861095del , CM000672.2:g.99861094_99861095del
GRCh38
NC_000010.10:g.101620851_101620852del , CM000672.1:g.101620851_101620852del
GRCh37
NC_000010.9:g.101610841_101610842del
NCBI36
Search 100 bp 5'
Search 100 bp 3'