Canonical Allele Identifier: PA2827775779
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 944531
ClinVar RCV Id: RCV001214948
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340883.1:p.Met350Thr
CA349071412
NM_001353954.2:c.1049T>C