×
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:
CA175776009
Gene:
Linked Data
dbSNP Id:
rs536422044
gnomAD v2:
8-38327045-A-AT
gnomAD v3:
8-38469527-A-AT
gnomAD v4:
8-38469527-A-AT
MyVariant Identifiers:
chr8:g.38327045_38327046insT (hg19)
chr8:g.38469527_38469528insT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.38469533dup , CM000670.2:g.38469533dup
GRCh38
NC_000008.10:g.38327051dup , CM000670.1:g.38327051dup
GRCh37
NC_000008.9:g.38446208dup
NCBI36
NG_007729.1:g.4307dup
Search 100 bp 5'
Search 100 bp 3'