Canonical Allele Identifier: PA2825879695
Gene: COG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2189629
ClinVar RCV Id: RCV002611702

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001138508.1:p.Ser347Asn
CA1447651
NM_001145036.2:c.1040G>A