Allele Registry

Canonical Allele Identifier: PA645467445

Gene: COG6 HGNC NCBI

ClinVar Allele:

328301

ClinVar RCV:

RCV000379241

RCV000650373

RCV003144201

RCV004537768

ClinVar Variation:

312133

HGVS (amino-acid)	Matching Registered Transcripts
NP_065802.1:p.Asp107Val	CA6958275 NM_020751.3:c.320A>T