×
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:
CA2560796919
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127505408_127505409del , CM000670.2:g.127505408_127505409del
GRCh38
NC_000008.10:g.128517653_128517654del , CM000670.1:g.128517653_128517654del
GRCh37
NC_000008.9:g.128586835_128586836del
NCBI36
Search 100 bp 5'
Search 100 bp 3'