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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:
CA919611510
Gene:
Linked Data
dbSNP Id:
rs1596084731
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.87419456_87419457del , CM000677.2:g.87419456_87419457del
GRCh38
NC_000015.9:g.87962687_87962688del , CM000677.1:g.87962687_87962688del
GRCh37
NC_000015.8:g.85763691_85763692del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_932584.1:n.340-184_340-183del
XR_932585.1:n.340-184_340-183del
XR_001751647.1:n.617-184_617-183del
XR_932585.2:n.627-184_627-183del
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