Canonical Allele Identifier: PA2825360215
Gene: SCN2A HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001035233.1:p.Trp1594Arg
CA16042354
NM_001040143.2:c.4780T>C
CA349036828
NM_001040143.2:c.4780T>A