Canonical Allele Identifier: PA2827774740
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000059437
ClinVar Variation:
68562
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.Phe1676Ser
CA266092
NM_001353952.2:c.5027T>C