Canonical Allele Identifier: PA2828472532
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2941718
ClinVar RCV Id: RCV003802740

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001358175.1:p.Gln1478His
CA349034341
NM_001371246.1:c.4434A>C
CA349034344
NM_001371246.1:c.4434A>T