Canonical Allele Identifier: PA2827785248
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 372741
ClinVar RCV Id: RCV000413156 RCV003992286 RCV003588626
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Glu760Lys
CA16042443
NM_001353958.2:c.2278G>A