×
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:
CA2053294135
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.88905963_88905965delinsAAT , CM000674.2:g.88905963_88905965delinsAAT
GRCh38
NC_000012.11:g.89299740_89299742delinsAAT , CM000674.1:g.89299740_89299742delinsAAT
GRCh37
NC_000012.10:g.87823871_87823873delinsAAT
NCBI36
Search 100 bp 5'
Search 100 bp 3'