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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:
CA1362049919
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.46304128_46304131delinsAATT , CM000665.2:g.46304128_46304131delinsAATT
GRCh38
NC_000003.11:g.46345619_46345622delinsAATT , CM000665.1:g.46345619_46345622delinsAATT
GRCh37
NC_000003.10:g.46320623_46320626delinsAATT
NCBI36
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