Canonical Allele Identifier: PA2827775559
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1801093
ClinVar RCV Id: RCV002462690
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340883.1:p.Leu224Phe
CA349074110
NM_001353954.2:c.672G>T
CA349074113
NM_001353954.2:c.672G>C