×
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:
CA1769199613
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.20130247_20130248delinsGC , CM000670.2:g.20130247_20130248delinsGC
GRCh38
NC_000008.10:g.19987758_19987759delinsGC , CM000670.1:g.19987758_19987759delinsGC
GRCh37
NC_000008.9:g.20032038_20032039delinsGC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_949563.1:n.3408+328_3408+329delinsGC
XR_949563.2:n.3400+328_3400+329delinsGC
Search 100 bp 5'
Search 100 bp 3'