Canonical Allele Identifier: PA2826197741
Gene: COG4 HGNC NCBI

Linked Data

ClinVar Variation Id: 449730
ClinVar RCV Id: RCV000522988 RCV000710020 RCV000625979 RCV001266583
ClinVar Variation Id: 585271
ClinVar RCV Id: RCV000710021
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182068.2:p.Gly512Arg
CA396572435
NM_001195139.2:c.1534G>C
CA396572437
NM_001195139.2:c.1534G>A