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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:
CA329467276
Gene:
Linked Data
dbSNP Id:
rs370941874
gnomAD v2:
X-43608574-TAGTAAC-T
gnomAD v3:
X-43749327-TAGTAAC-T
gnomAD v4:
X-43749327-TAGTAAC-T
MyVariant Identifiers:
chrX:g.43608575_43608580del (hg19)
chrX:g.43749328_43749333del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.43749331_43749336del , CM000685.2:g.43749331_43749336del
GRCh38
NC_000023.10:g.43608578_43608583del , CM000685.1:g.43608578_43608583del
GRCh37
NC_000023.9:g.43493522_43493527del
NCBI36
Search 100 bp 5'
Search 100 bp 3'