×
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:
CA1572634619
Gene:
Linked Data
dbSNP Id:
rs1753798936
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.111131687_111131689del , CM000667.2:g.111131687_111131689del
GRCh38
NC_000005.9:g.110467385_110467387del , CM000667.1:g.110467385_110467387del
GRCh37
NC_000005.8:g.110495284_110495286del
NCBI36
NG_008979.1:g.44516_44518del
Search 100 bp 5'
Search 100 bp 3'