Canonical Allele Identifier: PA2826260123
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1382067
ClinVar RCV Id: RCV001922132
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001189364.1:p.Gly1532Arg
CA349072354
NM_001202435.3:c.4594G>A
CA349072356
NM_001202435.3:c.4594G>C