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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:
CA948842827
Gene:
Linked Data
gnomAD v3:
12-68567702-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
gnomAD v4:
12-68567702-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.68567718_68567719insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000674.2:g.68567718_68567719insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38
NC_000012.11:g.68961498_68961499insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000674.1:g.68961498_68961499insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37
NC_000012.10:g.67247765_67247766insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'