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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:
CA2031042734
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.40373586_40373590delinsCACTG , CM000674.2:g.40373586_40373590delinsCACTG
GRCh38
NC_000012.11:g.40767388_40767392delinsCACTG , CM000674.1:g.40767388_40767392delinsCACTG
GRCh37
NC_000012.10:g.39053655_39053659delinsCACTG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_944868.1:n.485-18763_485-18759delinsCAGTG
XR_944869.1:n.485-1538_485-1534delinsCAGTG
XR_001749087.1:n.380-1538_380-1534delinsCAGTG
XR_001749088.1:n.347-1538_347-1534delinsCAGTG
XR_944868.2:n.485-18763_485-18759delinsCAGTG
XR_944869.2:n.485-1538_485-1534delinsCAGTG
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