Canonical Allele Identifier: PA2827773391
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189971
ClinVar RCV Id: RCV000180925
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.Tyr816Asp
CA303448
NM_001353952.2:c.2446T>G