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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:
CA847173635
Gene:
Linked Data
dbSNP Id:
rs1201233487
gnomAD v3:
8-127519879-A-AT
gnomAD v4:
8-127519879-A-AT
MyVariant Identifiers:
chr8:g.128532124_128532125insT (hg19)
chr8:g.127519879_127519880insT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127519886dup , CM000670.2:g.127519886dup
GRCh38
NC_000008.10:g.128532131dup , CM000670.1:g.128532131dup
GRCh37
NC_000008.9:g.128601313dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'