Canonical Allele Identifier: PA645407748
Gene: SCN2A HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066287.2:p.Trp1594Arg
CA16042354
NM_021007.3:c.4780T>C
CA349036828
NM_021007.3:c.4780T>A