Canonical Allele Identifier: PA2826258090
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 12896
ClinVar RCV Id: RCV000013758 RCV000255880 RCV000993711 RCV003595856 RCV003992153
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001189364.1:p.Met145Thr
CA256617
NM_001202435.3:c.434T>C