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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:
CA2031042712
Gene:
Linked Data
dbSNP Id:
rs1947024189
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.40373567del , CM000674.2:g.40373567del
GRCh38
NC_000012.11:g.40767369del , CM000674.1:g.40767369del
GRCh37
NC_000012.10:g.39053636del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_944868.1:n.485-18739del
XR_944869.1:n.485-1514del
XR_001749087.1:n.380-1514del
XR_001749088.1:n.347-1514del
XR_944868.2:n.485-18739del
XR_944869.2:n.485-1514del
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