×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1079297745
Gene:
Linked Data
gnomAD v3:
5-100006299-T-TAAAAAAAAAAAAAAAAAAAAAACAAAAAAA
gnomAD v4:
5-100006299-T-TAAAAAAAAAAAAAAAAAAAAAACAAAAAAA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.100006320_100006321insACAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000667.2:g.100006320_100006321insACAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38
NC_000005.9:g.99342024_99342025insACAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000667.1:g.99342024_99342025insACAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37
NC_000005.8:g.99369923_99369924insACAAAAAAAAAAAAAAAAAAAAAAAAAAAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'