×
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:
CA2591986103
Gene:
Linked Data
dbSNP Id:
rs2118166229
gnomAD v3:
9-12671951-G-GTGT
gnomAD v4:
9-12671951-G-GTGT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.12671953_12671955dup , CM000671.2:g.12671953_12671955dup
GRCh38
NC_000009.11:g.12671953_12671955dup , CM000671.1:g.12671953_12671955dup
GRCh37
NC_000009.10:g.12661953_12661955dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'