Canonical Allele Identifier: PA2827769220
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 12896
ClinVar RCV Id: RCV000013758 RCV000255880 RCV000993711 RCV003595856 RCV003992153
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340880.1:p.Met145Thr
CA256617
NM_001353951.2:c.434T>C