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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:
CA174716721
Gene:
Linked Data
dbSNP Id:
rs1041863096
gnomAD v3:
8-29502674-TTTCTC-T
gnomAD v4:
8-29502674-TTTCTC-T
MyVariant Identifiers:
chr8:g.29360192_29360196del (hg19)
chr8:g.29502675_29502679del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.29502678_29502682del , CM000670.2:g.29502678_29502682del
GRCh38
NC_000008.10:g.29360195_29360199del , CM000670.1:g.29360195_29360199del
GRCh37
NC_000008.9:g.29416114_29416118del
NCBI36
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