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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:
CA893889818
Gene:
Linked Data
dbSNP Id:
rs1218035986
gnomAD v3:
2-84018077-ATT-A
gnomAD v4:
2-84018077-ATT-A
MyVariant Identifiers:
chr2:g.84245202_84245203del (hg19)
chr2:g.84018078_84018079del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.84018079_84018080del , CM000664.2:g.84018079_84018080del
GRCh38
NC_000002.11:g.84245203_84245204del , CM000664.1:g.84245203_84245204del
GRCh37
NC_000002.10:g.84098714_84098715del
NCBI36
Search 100 bp 5'
Search 100 bp 3'