Canonical Allele Identifier: PA2827788316
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180816
ClinVar Variation:
189863
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Leu834Trp
CA303139
NM_001353960.2:c.2501T>G