Canonical Allele Identifier: PA2499275235
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1064582
ClinVar RCV Id: RCV001374630

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Pro346Leu
CA349071447
NM_006920.6:c.1037C>T