Canonical Allele Identifier: PA2827778590
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180938
ClinVar Variation:
189982
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.Asp249Glu
CA303474
NM_001353955.2:c.747T>G
CA349073628
NM_001353955.2:c.747T>A