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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:
CA1947204221
Gene:
Linked Data
dbSNP Id:
rs1858236510
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.641125_641135dup , CM000673.2:g.641125_641135dup
GRCh38
NC_000011.9:g.641125_641135dup , CM000673.1:g.641125_641135dup
GRCh37
NC_000011.8:g.631125_631135dup
NCBI36
NG_021241.1:g.8821_8831dup
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