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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:
CA990552780
Gene:
Linked Data
dbSNP Id:
rs2045774206
gnomAD v3:
18-55195882-G-GAAACAATAACATAAAA
gnomAD v4:
18-55195882-G-GAAACAATAACATAAAA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.55195891_55195892insCATAAAAAAACAATAA , CM000680.2:g.55195891_55195892insCATAAAAAAACAATAA
GRCh38
NC_000018.9:g.52863122_52863123insCATAAAAAAACAATAA , CM000680.1:g.52863122_52863123insCATAAAAAAACAATAA
GRCh37
NC_000018.8:g.51014120_51014121insCATAAAAAAACAATAA
NCBI36
Search 100 bp 5'
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