Allele Registry

Canonical Allele Identifier: PA2573280207

Gene: COG6 HGNC NCBI

ClinVar RCV:

RCV001910429

RCV004538619

ClinVar Variation:

1419535

HGVS (amino-acid)	Matching Registered Transcripts
NP_065802.1:p.Lys382Arg	CA6958570 NM_020751.3:c.1145A>G