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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:
CA1643745223
Gene:
Linked Data
dbSNP Id:
rs1769717794
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.85982261_85982263del , CM000668.2:g.85982261_85982263del
GRCh38
NC_000006.11:g.86691979_86691981del , CM000668.1:g.86691979_86691981del
GRCh37
NC_000006.10:g.86748698_86748700del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_241869.3:n.615-11119_615-11117del
XR_942747.1:n.41-1108_41-1106del
XR_942748.1:n.27-1108_27-1106del
XR_001744239.1:n.1570-11119_1570-11117del
XR_001744243.1:n.1433-11119_1433-11117del
XR_002956361.1:n.1992-11119_1992-11117del
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