Canonical Allele Identifier: PA2827775375
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2848612
ClinVar RCV Id: RCV003754682
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340883.1:p.Thr105Ser
CA349077082
NM_001353954.2:c.314C>G
CA349077084
NM_001353954.2:c.313A>T