Canonical Allele Identifier: PA2828817744
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_001366191.1:p.Pro531Ser
CA8133644
NM_001379262.1:c.1591C>T