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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:
CA1057419106
Gene:
Linked Data
dbSNP Id:
rs1722873228
gnomAD v3:
3-186831777-G-GGAA
gnomAD v4:
3-186831777-G-GGAA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.186831777_186831778insGAA , CM000665.2:g.186831777_186831778insGAA
GRCh38
NC_000003.11:g.186549566_186549567insGAA , CM000665.1:g.186549566_186549567insGAA
GRCh37
NC_000003.10:g.188032260_188032261insGAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'