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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:
CA2031042720
Gene:
Linked Data
dbSNP Id:
rs1947024244
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.40373574_40373575del , CM000674.2:g.40373574_40373575del
GRCh38
NC_000012.11:g.40767376_40767377del , CM000674.1:g.40767376_40767377del
GRCh37
NC_000012.10:g.39053643_39053644del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_944868.1:n.485-18745_485-18744del
XR_944869.1:n.485-1520_485-1519del
XR_001749087.1:n.380-1520_380-1519del
XR_001749088.1:n.347-1520_347-1519del
XR_944868.2:n.485-18745_485-18744del
XR_944869.2:n.485-1520_485-1519del
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