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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:
CA185887094
Gene:
Linked Data
dbSNP Id:
rs34274548
MyVariant Identifiers:
chr8:g.129645289_129645290insG (hg19)
chr8:g.128633043_128633044insG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.128633045dup , CM000670.2:g.128633045dup
GRCh38
NC_000008.10:g.129645291dup , CM000670.1:g.129645291dup
GRCh37
NC_000008.9:g.129714473dup
NCBI36
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