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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:
CA643962351
Gene:
Linked Data
dbSNP Id:
rs1556645778
gnomAD v2:
X-114922294-G-GGGGTAAC
gnomAD v3:
X-115687974-G-GGGGTAAC
gnomAD v4:
X-115687974-G-GGGGTAAC
MyVariant Identifiers:
chrX:g.114922294_114922295insGGGTAAC (hg19)
chrX:g.115687974_115687975insGGGTAAC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.115687975_115687981dup , CM000685.2:g.115687975_115687981dup
GRCh38
NC_000023.10:g.114922295_114922301dup , CM000685.1:g.114922295_114922301dup
GRCh37
NC_000023.9:g.114828551_114828557dup
NCBI36
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