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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:
CA2031042709
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.40373565_40373566delinsAG , CM000674.2:g.40373565_40373566delinsAG
GRCh38
NC_000012.11:g.40767367_40767368delinsAG , CM000674.1:g.40767367_40767368delinsAG
GRCh37
NC_000012.10:g.39053634_39053635delinsAG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_944868.1:n.485-18739_485-18738delinsCT
XR_944869.1:n.485-1514_485-1513delinsCT
XR_001749087.1:n.380-1514_380-1513delinsCT
XR_001749088.1:n.347-1514_347-1513delinsCT
XR_944868.2:n.485-18739_485-18738delinsCT
XR_944869.2:n.485-1514_485-1513delinsCT
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