Canonical Allele Identifier: PA2827772314
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1066871
ClinVar RCV Id: RCV001377989
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.Gly58Arg
CA349242942
NM_001353952.2:c.172G>C
CA349242943
NM_001353952.2:c.172G>A