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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:
CA2024148114
Gene:
Linked Data
dbSNP Id:
rs1865415293
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.28031963_28031984del , CM000674.2:g.28031963_28031984del
GRCh38
NC_000012.11:g.28184896_28184917del , CM000674.1:g.28184896_28184917del
GRCh37
NC_000012.10:g.28076163_28076184del
NCBI36
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