Canonical Allele Identifier: PA2827788276
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1792336
ClinVar RCV Id: RCV002431152 RCV003389908
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Asp807Glu
CA349062579
NM_001353960.2:c.2421C>G
CA349062580
NM_001353960.2:c.2421C>A