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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:
CA1373743931
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.70577144_70577146delinsCAG , CM000665.2:g.70577144_70577146delinsCAG
GRCh38
NC_000003.11:g.70626295_70626297delinsCAG , CM000665.1:g.70626295_70626297delinsCAG
GRCh37
NC_000003.10:g.70708985_70708987delinsCAG
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_940947.1:n.407-1193_407-1191delinsCTG
XR_001740559.1:n.367-1193_367-1191delinsCTG
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