Canonical Allele Identifier: PA2827773147
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 375511
ClinVar RCV Id: RCV000417000
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.Glu616Asp
CA16044314
NM_001353952.2:c.1848G>C
CA349067460
NM_001353952.2:c.1848G>T