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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:
CA1087446427
Gene:
Linked Data
gnomAD v3:
6-31264271-T-TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
gnomAD v4:
6-31264271-T-TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31264271_31264272insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000668.2:g.31264271_31264272insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38
NC_000006.11:g.31232048_31232049insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000668.1:g.31232048_31232049insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37
NC_000006.10:g.31340027_31340028insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'