×
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:
CA2607303001
Gene:
Linked Data
gnomAD v3:
2-207527274-GA-G
gnomAD v4:
2-207527274-GA-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.207527281del , CM000664.2:g.207527281del
GRCh38
NC_000002.11:g.208392005del , CM000664.1:g.208392005del
GRCh37
NC_000002.10:g.208100250del
NCBI36
NG_023299.1:g.2390del
Search 100 bp 5'
Search 100 bp 3'