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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:
CA2031042738
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.40373593_40373596delinsTGAA , CM000674.2:g.40373593_40373596delinsTGAA
GRCh38
NC_000012.11:g.40767395_40767398delinsTGAA , CM000674.1:g.40767395_40767398delinsTGAA
GRCh37
NC_000012.10:g.39053662_39053665delinsTGAA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_944868.1:n.485-18769_485-18766delinsTTCA
XR_944869.1:n.485-1544_485-1541delinsTTCA
XR_001749087.1:n.380-1544_380-1541delinsTTCA
XR_001749088.1:n.347-1544_347-1541delinsTTCA
XR_944868.2:n.485-18769_485-18766delinsTTCA
XR_944869.2:n.485-1544_485-1541delinsTTCA
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