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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:
CA1225896512
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.228883501_228883502delinsGT , CM000663.2:g.228883501_228883502delinsGT
GRCh38
NC_000001.10:g.229019248_229019249delinsGT , CM000663.1:g.229019248_229019249delinsGT
GRCh37
NC_000001.9:g.227085871_227085872delinsGT
NCBI36
Search 100 bp 5'
Search 100 bp 3'