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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:
CA829129737
Gene:
Linked Data
dbSNP Id:
rs1441506195
gnomAD v3:
6-85982283-AC-A
gnomAD v4:
6-85982283-AC-A
MyVariant Identifiers:
chr6:g.86692002del (hg19)
chr6:g.85982284del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.85982284del , CM000668.2:g.85982284del
GRCh38
NC_000006.11:g.86692002del , CM000668.1:g.86692002del
GRCh37
NC_000006.10:g.86748721del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_241869.3:n.615-11096del
XR_942747.1:n.41-1085del
XR_942748.1:n.27-1085del
XR_001744239.1:n.1570-11096del
XR_001744243.1:n.1433-11096del
XR_002956361.1:n.1992-11096del
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