Canonical Allele Identifier: PA2828472119
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1059086
ClinVar RCV Id: RCV001368305 RCV003490230
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001358175.1:p.Thr1240Ile
CA349027715
NM_001371246.1:c.3719C>T