Canonical Allele Identifier: PA2829676467
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 420677
ClinVar RCV Id: RCV000479372
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Pro1748Ser
CA16617281
NM_006920.6:c.5242C>T