Canonical Allele Identifier: PA2827788189
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1012964
ClinVar RCV Id: RCV001311219
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Val750Ala
CA349064175
NM_001353960.2:c.2249T>C