Allele Registry

Canonical Allele Identifier: PA916001317

Gene: COG2 HGNC NCBI

ClinVar RCV:

RCV000994280

RCV001244953

RCV004030170

ClinVar Variation:

806379

HGVS (amino-acid)	Matching Registered Transcripts
NP_031383.1:p.Arg356Trp	CA1447655 NM_007357.3:c.1066C>T