×
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:
CA2569074506
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.16885014_16885017del , CM000686.2:g.16885014_16885017del
GRCh38
NC_000024.9:g.18996894_18996897del , CM000686.1:g.18996894_18996897del
GRCh37
NC_000024.8:g.17506288_17506291del
NCBI36
Search 100 bp 5'
Search 100 bp 3'