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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:
CA49690047
Gene:
Linked Data
dbSNP Id:
rs558533308
gnomAD v2:
2-71100070-C-CTG
gnomAD v3:
2-70872940-C-CTG
gnomAD v4:
2-70872940-C-CTG
MyVariant Identifiers:
chr2:g.71100072_71100073insTG (hg19)
chr2:g.71100070_71100071insTG (hg19)
chr2:g.70872942_70872943insTG (hg38)
chr2:g.70872940_70872941insTG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.70872954_70872955dup , CM000664.2:g.70872954_70872955dup
GRCh38
NC_000002.11:g.71100084_71100085dup , CM000664.1:g.71100084_71100085dup
GRCh37
NC_000002.10:g.70953592_70953593dup
NCBI36
Search 100 bp 5'
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