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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:
CA948842826
Gene:
Linked Data
gnomAD v3:
12-68567702-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
gnomAD v4:
12-68567702-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.68567718_68567719insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000674.2:g.68567718_68567719insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38
NC_000012.11:g.68961498_68961499insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000674.1:g.68961498_68961499insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37
NC_000012.10:g.67247765_67247766insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'