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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:
CA2601798584
Gene:
Linked Data
gnomAD v3:
5-100006299-T-TAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAA
gnomAD v4:
5-100006299-T-TAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.100006320_100006321insAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000667.2:g.100006320_100006321insAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38
NC_000005.9:g.99342024_99342025insAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000667.1:g.99342024_99342025insAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37
NC_000005.8:g.99369923_99369924insAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'