Canonical Allele Identifier: PA2827764301
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180966
ClinVar Variation:
190010
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340879.1:p.Pro657Leu
CA303541
NM_001353950.2:c.1970C>T