×
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:
CA930712849
Gene:
Linked Data
dbSNP Id:
rs1841340428
gnomAD v3:
10-84829145-AC-A
gnomAD v4:
10-84829145-AC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.84829146del , CM000672.2:g.84829146del
GRCh38
NC_000010.10:g.86588902del , CM000672.1:g.86588902del
GRCh37
NC_000010.9:g.86578882del
NCBI36
Search 100 bp 5'
Search 100 bp 3'