Canonical Allele Identifier: PA2827788451
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189882
ClinVar RCV Id: RCV000180835

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Arg917Pro
CA303197
NM_001353960.2:c.2750G>C