×
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:
CA2731372835
Gene:
Linked Data
dbSNP Id:
rs2141351453
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.78622543dup , CM000677.2:g.78622543dup
GRCh38
NC_000015.9:g.78914885dup , CM000677.1:g.78914885dup
GRCh37
NC_000015.8:g.76701940dup
NCBI36
NG_016143.1:g.3753dup
Search 100 bp 5'
Search 100 bp 3'