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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:
CA334790879
Gene:
Linked Data
dbSNP Id:
rs768781746
gnomAD v2:
X-116222232-T-TA
gnomAD v3:
X-117088264-T-TA
gnomAD v4:
X-117088264-T-TA
MyVariant Identifiers:
chrX:g.116222232_116222233insA (hg19)
chrX:g.117088264_117088265insA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.117088265dup , CM000685.2:g.117088265dup
GRCh38
NC_000023.10:g.116222233dup , CM000685.1:g.116222233dup
GRCh37
NC_000023.9:g.116106261dup
NCBI36
Search 100 bp 5'
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