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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:
CA948842824
Gene:
Linked Data
gnomAD v3:
12-68567702-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
gnomAD v4:
12-68567702-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.68567718_68567719insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000674.2:g.68567718_68567719insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38
NC_000012.11:g.68961498_68961499insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000674.1:g.68961498_68961499insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37
NC_000012.10:g.67247765_67247766insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'