Canonical Allele Identifier: PA2827754888
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 373157
ClinVar RCV Id: RCV000412769 RCV001861426
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Gly1749Arg
CA16042389
NM_001353948.2:c.5245G>A
CA349068398
NM_001353948.2:c.5245G>C