Allele Registry

Canonical Allele Identifier: PA2741965636

Gene: COG6 HGNC NCBI

ClinVar RCV:

RCV003378491

RCV003778040

ClinVar Variation:

2610813

HGVS (amino-acid)	Matching Registered Transcripts
NP_065802.1:p.Pro369Ser	CA248374073 NM_020751.3:c.1105C>T