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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:
CA221333013
Gene:
Linked Data
dbSNP Id:
rs965485745
gnomAD v2:
11-41915437-C-CGT
gnomAD v3:
11-41893887-C-CGT
gnomAD v4:
11-41893887-C-CGT
MyVariant Identifiers:
chr11:g.41915437_41915438insGT (hg19)
chr11:g.41893887_41893888insGT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.41893896_41893897dup , CM000673.2:g.41893896_41893897dup
GRCh38
NC_000011.9:g.41915446_41915447dup , CM000673.1:g.41915446_41915447dup
GRCh37
NC_000011.8:g.41872022_41872023dup
NCBI36
Search 100 bp 5'
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