Canonical Allele Identifier: PA1139724458
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 937577
ClinVar RCV Id: RCV001206617

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066287.2:p.Phe374Leu
CA349020863
NM_021007.3:c.1120T>C
CA349020883
NM_021007.3:c.1122T>A
CA349020885
NM_021007.3:c.1122T>G