Canonical Allele Identifier: PA2828817873
Gene: COG8 HGNC NCBI

Linked Data

ClinVar Variation Id: 235232
ClinVar RCV Id: RCV000224018 RCV000438860 RCV001082485
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366192.1:p.Pro544Ser
CA8133644
NM_001379263.1:c.1630C>T