×
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:
CA2599672290
Gene:
Linked Data
dbSNP Id:
rs2106770329
gnomAD v3:
3-70414118-A-ATTG
gnomAD v4:
3-70414118-A-ATTG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.70414119_70414120insTGT , CM000665.2:g.70414119_70414120insTGT
GRCh38
NC_000003.11:g.70463270_70463271insTGT , CM000665.1:g.70463270_70463271insTGT
GRCh37
NC_000003.10:g.70545960_70545961insTGT
NCBI36
Search 100 bp 5'
Search 100 bp 3'