Canonical Allele Identifier: PA2827787477
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 844965
ClinVar RCV Id: RCV001047939

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Val229Leu
CA349074045
NM_001353960.2:c.685G>C