Canonical Allele Identifier: PA2827753409
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 190014
ClinVar RCV Id: RCV000180970
ClinVar Variation Id: 2734302
ClinVar RCV Id: RCV003588457
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Val1390Leu
CA303554
NM_001353948.2:c.4168G>C
CA349050206
NM_001353948.2:c.4168G>T