×
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:
CA2540215169
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.92929454_92929455del , CM000675.2:g.92929454_92929455del
GRCh38
NC_000013.10:g.93581707_93581708del , CM000675.1:g.93581707_93581708del
GRCh37
NC_000013.9:g.92379708_92379709del
NCBI36
Search 100 bp 5'
Search 100 bp 3'