Canonical Allele Identifier: PA2827789376
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1067239
ClinVar RCV Id: RCV001378447
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Ile1516Lys
CA349072268
NM_001353960.2:c.4547T>A