Canonical Allele Identifier: PA2827778767
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 642450
ClinVar RCV Id: RCV000795921

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.Met350Lys
CA349071413
NM_001353955.2:c.1049T>A