Canonical Allele Identifier: PA2827772613
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189982
ClinVar RCV Id: RCV000180938
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.Asp249Glu
CA303474
NM_001353952.2:c.747T>G
CA349073628
NM_001353952.2:c.747T>A