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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:
CA1369169865
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.61428113_61428114delinsAC , CM000665.2:g.61428113_61428114delinsAC
GRCh38
NC_000003.11:g.61413787_61413788delinsAC , CM000665.1:g.61413787_61413788delinsAC
GRCh37
NC_000003.10:g.61388827_61388828delinsAC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_940892.1:n.164+400_164+401delinsGT
XR_940893.1:n.164+400_164+401delinsGT
XR_001740725.1:n.202+400_202+401delinsGT
XR_940892.2:n.202+400_202+401delinsGT
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