Canonical Allele Identifier: PA2827778359
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 916181
ClinVar RCV Id: RCV001171719

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.Ala104del
CA1139655708
NM_001353955.2:c.310_312del