Canonical Allele Identifier: PA2827780037
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180922
ClinVar Variation:
189968
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.Thr1288Arg
CA303438
NM_001353955.2:c.3863C>G