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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:
CA848570971
Gene:
Linked Data
dbSNP Id:
rs1325235292
gnomAD v3:
8-141530866-GTCT-G
gnomAD v4:
8-141530866-GTCT-G
MyVariant Identifiers:
chr8:g.142540967_142540969del (hg19)
chr8:g.141530867_141530869del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.141530870_141530872del , CM000670.2:g.141530870_141530872del
GRCh38
NC_000008.10:g.142540970_142540972del , CM000670.1:g.142540970_142540972del
GRCh37
NC_000008.9:g.142610152_142610154del
NCBI36
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