Canonical Allele Identifier: PA303230
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180845
ClinVar Variation:
189893
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Arg1916Thr
CA303228
NM_006920.6:c.5747G>C