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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:
CA1079297797
Gene:
Linked Data
gnomAD v3:
5-100006299-T-TAAAAAAAAAAAAAAAAAAAAAAAAAAA
gnomAD v4:
5-100006299-T-TAAAAAAAAAAAAAAAAAAAAAAAAAAA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.100006320_100006321insAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000667.2:g.100006320_100006321insAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38
NC_000005.9:g.99342024_99342025insAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000667.1:g.99342024_99342025insAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37
NC_000005.8:g.99369923_99369924insAAAAAAAAAAAAAAAAAAAAAAAAAAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'