Canonical Allele Identifier: PA2828474152
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 937577
ClinVar RCV Id: RCV001206617

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001358176.1:p.Phe374Leu
CA349020863
NM_001371247.1:c.1120T>C
CA349020883
NM_001371247.1:c.1122T>A
CA349020885
NM_001371247.1:c.1122T>G