Canonical Allele Identifier: PA2825353733
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 939053
ClinVar RCV Id: RCV001208379

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001035232.1:p.Phe288Leu
CA59728749
NM_001040142.2:c.864T>G
CA349018390
NM_001040142.2:c.862T>C
CA349018399
NM_001040142.2:c.864T>A