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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:
CA2304988914
Gene:
Linked Data
dbSNP Id:
rs2045774130
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.55195875_55195890del , CM000680.2:g.55195875_55195890del
GRCh38
NC_000018.9:g.52863106_52863121del , CM000680.1:g.52863106_52863121del
GRCh37
NC_000018.8:g.51014104_51014119del
NCBI36
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