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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:
CA948842823
Gene:
Linked Data
gnomAD v3:
12-68567702-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
gnomAD v4:
12-68567702-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.68567718_68567719insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000674.2:g.68567718_68567719insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38
NC_000012.11:g.68961498_68961499insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000674.1:g.68961498_68961499insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37
NC_000012.10:g.67247765_67247766insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'