Canonical Allele Identifier: PA2827788197
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 856834
ClinVar RCV Id: RCV001062381

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Thr753Ser
CA349064124
NM_001353960.2:c.2258C>G
CA349064129
NM_001353960.2:c.2257A>T