Canonical Allele Identifier: PA2827769330
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2711277
ClinVar RCV Id: RCV003590499
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340880.1:p.Phe178Leu
CA349075514
NM_001353951.2:c.534C>G
CA349075515
NM_001353951.2:c.534C>A
CA349075523
NM_001353951.2:c.532T>C