×
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:
CA1551316449
Gene:
Linked Data
dbSNP Id:
rs1743122117
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.63737932_63737940dup , CM000667.2:g.63737932_63737940dup
GRCh38
NC_000005.9:g.63033759_63033767dup , CM000667.1:g.63033759_63033767dup
GRCh37
NC_000005.8:g.63069515_63069523dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'