Canonical Allele Identifier: PA2827783875
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000414903
ClinVar Variation:
374394
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Val1756Ala
CA16043651
NM_001353957.2:c.5267T>C