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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:
CA948842846
Gene:
Linked Data
gnomAD v3:
12-68567702-C-CAAAAAAAAAAAAAAAAAAAAAAAA
gnomAD v4:
12-68567702-C-CAAAAAAAAAAAAAAAAAAAAAAAA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.68567718_68567719insAAAAAAAAAAAAAAAAAAAAAAAA , CM000674.2:g.68567718_68567719insAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38
NC_000012.11:g.68961498_68961499insAAAAAAAAAAAAAAAAAAAAAAAA , CM000674.1:g.68961498_68961499insAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37
NC_000012.10:g.67247765_67247766insAAAAAAAAAAAAAAAAAAAAAAAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'