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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:
CA2063083731
Gene:
Linked Data
dbSNP Id:
rs2071870090
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.110948378_110948379del , CM000674.2:g.110948378_110948379del
GRCh38
NC_000012.11:g.111386182_111386183del , CM000674.1:g.111386182_111386183del
GRCh37
NC_000012.10:g.109870565_109870566del
NCBI36
Search 100 bp 5'
Search 100 bp 3'