Canonical Allele Identifier: PA2827775171
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 530419
ClinVar RCV Id: RCV000636278 RCV001089689 RCV001706692
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.Ala1927Val
CA59797796
NM_001353952.2:c.5780C>T