Canonical Allele Identifier: PA645405524
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 408919
ClinVar RCV Id: RCV000464386 RCV003320649
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159435.1:p.His1929Gln
CA16610265
NM_001165963.4:c.5787C>G
CA349063878
NM_001165963.4:c.5787C>A