Canonical Allele Identifier: PA2827783205
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2061575
ClinVar RCV Id: RCV002942835

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Phe1387Leu
CA349049943
NM_001353957.2:c.4161T>G
CA349049944
NM_001353957.2:c.4161T>A
CA349049949
NM_001353957.2:c.4159T>C