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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:
CA2348492796
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.7571865_7571867delinsCAG , CM000682.2:g.7571865_7571867delinsCAG
GRCh38
NC_000020.10:g.7552512_7552514delinsCAG , CM000682.1:g.7552512_7552514delinsCAG
GRCh37
NC_000020.9:g.7500512_7500514delinsCAG
NCBI36
Search 100 bp 5'
Search 100 bp 3'