×
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:
CA1949563588
Gene:
Linked Data
dbSNP Id:
rs1589890997
gnomAD v4:
11-5225390-C-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.5225390C>G , CM000673.2:g.5225390C>G
GRCh38
NC_000011.9:g.5246620C>G , CM000673.1:g.5246620C>G
GRCh37
NC_000011.8:g.5203196C>G
NCBI36
NG_000007.3:g.72226G>C
NG_059281.1:g.6682G>C
Search 100 bp 5'
Search 100 bp 3'