Canonical Allele Identifier: PA2827788976
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 944887
ClinVar RCV Id: RCV001215386
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Arg1296Ser
CA349052983
NM_001353960.2:c.3888A>T
CA349052985
NM_001353960.2:c.3888A>C