Canonical Allele Identifier: PA916036587
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 194617
ClinVar RCV Id: RCV000462390 RCV000585632
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.His992Gln
CA240694
NM_001353958.2:c.2976C>A
CA349060180
NM_001353958.2:c.2976C>G