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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:
CA1427077017
Gene:
Linked Data
dbSNP Id:
rs1719906243
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.186715195_186715196dup , CM000665.2:g.186715195_186715196dup
GRCh38
NC_000003.11:g.186432984_186432985dup , CM000665.1:g.186432984_186432985dup
GRCh37
NC_000003.10:g.187915678_187915679dup
NCBI36
NG_016009.1:g.2887_2888dup
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