Canonical Allele Identifier: PA2827751135
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2251743
ClinVar RCV Id: RCV002772149
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Cys647Ser
CA349067243
NM_001353948.2:c.1940G>C
CA349067247
NM_001353948.2:c.1939T>A