Canonical Allele Identifier: PA2827786164
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_001340887.1:p.Asn1386Lys
CA221587
NM_001353958.2:c.4158C>G
CA349049951
NM_001353958.2:c.4158C>A