Canonical Allele Identifier: PA2827769804
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180884
ClinVar Variation:
189931
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340880.1:p.Met350Val
CA303338
NM_001353951.2:c.1048A>G