×
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:
CA2809162103
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.30237195_30237217dup , CM000679.2:g.30237195_30237217dup
GRCh38
NC_000017.10:g.28564213_28564235dup , CM000679.1:g.28564213_28564235dup
GRCh37
NC_000017.9:g.25588339_25588361dup
NCBI36
NG_011747.2:g.3737_3759dup
Transcript Alleles
HGVS
Amino-acid Change
XR_934654.1:n.165+125_165+147dup
XR_001752824.1:n.280+125_280+147dup
Search 100 bp 5'
Search 100 bp 3'