Canonical Allele Identifier: PA2827774496
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 429417
ClinVar RCV Id: RCV000493824

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.Asp1533His
CA349072277
NM_001353952.2:c.4597G>C