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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:
CA1311286817
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.180211970_180211971delinsCT , CM000664.2:g.180211970_180211971delinsCT
GRCh38
NC_000002.11:g.181076697_181076698delinsCT , CM000664.1:g.181076697_181076698delinsCT
GRCh37
NC_000002.10:g.180784942_180784943delinsCT
NCBI36
Search 100 bp 5'
Search 100 bp 3'