×
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:
CA1373743868
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.70577104_70577109delinsTCACAC , CM000665.2:g.70577104_70577109delinsTCACAC
GRCh38
NC_000003.11:g.70626255_70626260delinsTCACAC , CM000665.1:g.70626255_70626260delinsTCACAC
GRCh37
NC_000003.10:g.70708945_70708950delinsTCACAC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_940947.1:n.407-1156_407-1151delinsGTGTGA
XR_001740559.1:n.367-1156_367-1151delinsGTGTGA
Search 100 bp 5'
Search 100 bp 3'