Canonical Allele Identifier: PA2828474101
Gene: SCN2A HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001358176.1:p.Asp343Val
CA16603896
NM_001371247.1:c.1028A>T