Canonical Allele Identifier: PA2827777752
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189970
ClinVar RCV Id: RCV000180924
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340883.1:p.Asp1690Glu
CA303444
NM_001353954.2:c.5070T>A
CA349069185
NM_001353954.2:c.5070T>G