×
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:
CA2291643257
Gene:
Linked Data
dbSNP Id:
rs2054744151
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.26850612dup , CM000680.2:g.26850612dup
GRCh38
NC_000018.9:g.24430576dup , CM000680.1:g.24430576dup
GRCh37
NC_000018.8:g.22684574dup
NCBI36
NG_029560.1:g.20144dup
Search 100 bp 5'
Search 100 bp 3'