×
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:
CA730277758
Gene:
Linked Data
dbSNP Id:
rs1404715461
gnomAD v3:
1-203187881-GCTCTCTCCCTCTTCTCTCC-G
gnomAD v4:
1-203187881-GCTCTCTCCCTCTTCTCTCC-G
MyVariant Identifiers:
chr1:g.203157010_203157028del (hg19)
chr1:g.203187882_203187900del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.203187892_203187910del , CM000663.2:g.203187892_203187910del
GRCh38
NC_000001.10:g.203157020_203157038del , CM000663.1:g.203157020_203157038del
GRCh37
NC_000001.9:g.201423643_201423661del
NCBI36
NG_013056.1:g.3895_3913del
Search 100 bp 5'
Search 100 bp 3'