Canonical Allele Identifier: PA2827780624
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180961
ClinVar Variation:
190005
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.Arg1633Pro
CA303527
NM_001353955.2:c.4898G>C