Canonical Allele Identifier: PA2828475090
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 984864
ClinVar RCV Id: RCV001265416
ClinVar Variation Id: 2021309
ClinVar RCV Id: RCV002866294

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001358176.1:p.Phe978Leu
CA349019375
NM_001371247.1:c.2932T>C
CA349019383
NM_001371247.1:c.2934C>A
CA349019385
NM_001371247.1:c.2934C>G