Canonical Allele Identifier: PA2827760447
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 12902
ClinVar RCV Id: RCV000013765 RCV001857344 RCV001090363 RCV003992154
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Phe1488Leu
CA256620
NM_001353949.2:c.4462T>C
CA349048844
NM_001353949.2:c.4464T>G
CA349048846
NM_001353949.2:c.4464T>A