Canonical Allele Identifier: PA221590
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 93650
ClinVar RCV Id: RCV000079582
ClinVar Variation Id: 2133727
ClinVar RCV Id: RCV003041079

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159435.1:p.Asn1414Lys
CA221587
NM_001165963.4:c.4242C>G
CA349049951
NM_001165963.4:c.4242C>A