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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:
CA467132313
Gene:
Linked Data
dbSNP Id:
rs3216733
gnomAD v2:
9-128003788-G-GC
gnomAD v3:
9-125241509-G-GC
gnomAD v4:
9-125241509-G-GC
MyVariant Identifiers:
chr9:g.128003790_128003791insC (hg19)
chr9:g.128003788_128003789insC (hg19)
chr9:g.125241511_125241512insC (hg38)
chr9:g.125241509_125241510insC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.125241517dup , CM000671.2:g.125241517dup
GRCh38
NC_000009.11:g.128003796dup , CM000671.1:g.128003796dup
GRCh37
NC_000009.10:g.127043617dup
NCBI36
NG_027761.1:g.4878dup
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