Canonical Allele Identifier: PA2826258064
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 195131
ClinVar RCV Id: RCV000474474 RCV000764287 RCV000724565
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001189364.1:p.His127Asp
CA302801
NM_001202435.3:c.379C>G