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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:
CA174826676
Gene:
Linked Data
ClinVar Variation Id:
1286958
ClinVar RCV Id:
RCV001708583
dbSNP Id:
rs8190877
gnomAD v2:
8-30585700-A-AC
gnomAD v3:
8-30728183-A-AC
gnomAD v4:
8-30728183-A-AC
MyVariant Identifiers:
chr8:g.30585700_30585701insC (hg19)
chr8:g.30728183_30728184insC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.30728184dup , CM000670.2:g.30728184dup
GRCh38
NC_000008.10:g.30585701dup , CM000670.1:g.30585701dup
GRCh37
NC_000008.9:g.30705243dup
NCBI36
NG_027719.1:g.4786dup
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