Canonical Allele Identifier: PA2828473962
Gene: SCN2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001358176.1:p.Met252Leu
CA349017953
NM_001371247.1:c.754A>C
CA349017955
NM_001371247.1:c.754A>T