Canonical Allele Identifier: PA2827757181
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180872
ClinVar Variation:
189920
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Val422Ala
CA303306
NM_001353949.2:c.1265T>C