Canonical Allele Identifier: PA2827772525
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 461284
ClinVar RCV Id: RCV000557448
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.Asp194Tyr
CA349075328
NM_001353952.2:c.580G>T