Canonical Allele Identifier: PA2827785542
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180948
ClinVar Variation:
189992
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Cys940Phe
CA303499
NM_001353958.2:c.2819G>T