Canonical Allele Identifier: PA2827781160
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 451274
ClinVar RCV Id: RCV000523033 RCV002525199
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.[Asn1940Ile;Leu1942del]
CA658657091
NM_001353955.2:c.5819_5821del