Canonical Allele Identifier: PA2825879695
Gene: COG2 HGNC NCBI
ClinVar RCV:
RCV002611702
ClinVar Variation:
2189629
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Amino-acid Alleles

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