Canonical Allele Identifier: PA317503
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206839
ClinVar RCV Id: RCV000188964 RCV000986876 RCV001085148 RCV002317151
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Pro1508Leu
CA317501
NM_006920.6:c.4523C>T