×
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:
CA2290222847
Gene:
Linked Data
dbSNP Id:
rs2060403850
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.23663940del , CM000680.2:g.23663940del
GRCh38
NC_000018.9:g.21243904del , CM000680.1:g.21243904del
GRCh37
NC_000018.8:g.19497902del
NCBI36
Search 100 bp 5'
Search 100 bp 3'