Canonical Allele Identifier: PA2827787740
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180840
ClinVar Variation:
189888
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Met379Lys
CA303214
NM_001353960.2:c.1136T>A