×
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:
CA2769072744
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.157603203_157603204del , CM000667.2:g.157603203_157603204del
GRCh38
NC_000005.9:g.157030211_157030212del , CM000667.1:g.157030211_157030212del
GRCh37
NC_000005.8:g.156962789_156962790del
NCBI36
Search 100 bp 5'
Search 100 bp 3'