×
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:
CA653502503
Gene:
Linked Data
COSMIC:
COSN1480253
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.18099350_18099351del , CM000672.2:g.18099350_18099351del
GRCh38
NC_000010.10:g.18388279_18388280del , CM000672.1:g.18388279_18388280del
GRCh37
NC_000010.9:g.18428285_18428286del
NCBI36
Search 100 bp 5'
Search 100 bp 3'