Canonical Allele Identifier: PA2827785927
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180984
ClinVar Variation:
190028
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Tyr1246Ser
CA303594
NM_001353958.2:c.3737A>C