Canonical Allele Identifier: PA2828470599
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 378927
ClinVar RCV Id: RCV000436956 RCV001042388 RCV001848748 RCV002267611 RCV001848747 RCV002281573 RCV003155938 RCV003441147 RCV002319492
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001358175.1:p.Val261Met
CA16604008
NM_001371246.1:c.781G>A