×
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:
CA2355978696
Gene:
Linked Data
dbSNP Id:
rs1980376320
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.23661634del , CM000682.2:g.23661634del
GRCh38
NC_000020.10:g.23642271del , CM000682.1:g.23642271del
GRCh37
NC_000020.9:g.23590271del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001754712.1:n.264del
Search 100 bp 5'
Search 100 bp 3'