ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2741992008
Gene: COG8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2914898
ClinVar RCV Id:
RCV003609868
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115758.3:p.Asp45His
CA8134050
NM_032382.5:c.133G>C