Canonical Allele Identifier: PA2827750244
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 642450
ClinVar RCV Id: RCV000795921
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Met350Lys
CA349071413
NM_001353948.2:c.1049T>A