Canonical Allele Identifier: PA1139741029
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 848474
ClinVar RCV Id: RCV001052241 RCV003106104
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Val597Met
CA349049976
NM_001353961.2:c.1789G>A