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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:
CA1079297884
Gene:
Linked Data
dbSNP Id:
rs35923568
gnomAD v3:
5-100006299-T-TAAAAAAAAAAAAAAAAAAAAAA
gnomAD v4:
5-100006299-T-TAAAAAAAAAAAAAAAAAAAAAA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.100006320_100006321insAAAAAAAAAAAAAAAAAAAAAA , CM000667.2:g.100006320_100006321insAAAAAAAAAAAAAAAAAAAAAA
GRCh38
NC_000005.9:g.99342024_99342025insAAAAAAAAAAAAAAAAAAAAAA , CM000667.1:g.99342024_99342025insAAAAAAAAAAAAAAAAAAAAAA
GRCh37
NC_000005.8:g.99369923_99369924insAAAAAAAAAAAAAAAAAAAAAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'