Canonical Allele Identifier: PA2827777248
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2061575
ClinVar RCV Id: RCV002942835
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340883.1:p.Phe1403Leu
CA349049943
NM_001353954.2:c.4209T>G
CA349049944
NM_001353954.2:c.4209T>A
CA349049949
NM_001353954.2:c.4207T>C