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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
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Canonical Allele Identifier:
CA1369169800
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.61427973_61427975delinsTCA , CM000665.2:g.61427973_61427975delinsTCA
GRCh38
NC_000003.11:g.61413647_61413649delinsTCA , CM000665.1:g.61413647_61413649delinsTCA
GRCh37
NC_000003.10:g.61388687_61388689delinsTCA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_940892.1:n.165-289_165-287delinsTGA
XR_940893.1:n.164+539_164+541delinsTGA
XR_001740725.1:n.202+539_202+541delinsTGA
XR_940892.2:n.203-289_203-287delinsTGA
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