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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:
CA2798636122
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.28658896del , CM000675.2:g.28658896del
GRCh38
NC_000013.10:g.29233033del , CM000675.1:g.29233033del
GRCh37
NC_000013.9:g.28131033del
NCBI36
NG_027550.1:g.4893del
Search 100 bp 5'
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