×
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:
CA2700885345
Gene:
Linked Data
dbSNP Id:
rs2105300773
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.168260463del , CM000664.2:g.168260463del
GRCh38
NC_000002.11:g.169116973del , CM000664.1:g.169116973del
GRCh37
NC_000002.10:g.168825219del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001739763.1:n.912-4633del
XR_001739764.1:n.318-4633del
XR_001739765.1:n.436-4633del
Search 100 bp 5'
Search 100 bp 3'