×
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:
CA1128333671
Gene:
Linked Data
dbSNP Id:
rs1829678042
gnomAD v3:
9-114321450-T-TTG
gnomAD v4:
9-114321450-T-TTG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.114321451_114321452insGT , CM000671.2:g.114321451_114321452insGT
GRCh38
NC_000009.11:g.117083731_117083732insGT , CM000671.1:g.117083731_117083732insGT
GRCh37
NC_000009.10:g.116123552_116123553insGT
NCBI36
NG_012108.1:g.3429_3430insGT
Search 100 bp 5'
Search 100 bp 3'