Canonical Allele Identifier: PA2827783647
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180799
ClinVar Variation:
189845
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Pro1640Arg
CA303095
NM_001353957.2:c.4919C>G