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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:
CA1079297881
Gene:
Linked Data
gnomAD v3:
5-100006299-T-TAAAAAAAAAAAAAAAAAAAAAAA
gnomAD v4:
5-100006299-T-TAAAAAAAAAAAAAAAAAAAAAAA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.100006320_100006321insAAAAAAAAAAAAAAAAAAAAAAA , CM000667.2:g.100006320_100006321insAAAAAAAAAAAAAAAAAAAAAAA
GRCh38
NC_000005.9:g.99342024_99342025insAAAAAAAAAAAAAAAAAAAAAAA , CM000667.1:g.99342024_99342025insAAAAAAAAAAAAAAAAAAAAAAA
GRCh37
NC_000005.8:g.99369923_99369924insAAAAAAAAAAAAAAAAAAAAAAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'