Canonical Allele Identifier: PA2827781092
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68669
ClinVar RCV Id: RCV000059549 RCV000494436 RCV000705871
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.Thr1897Ile
CA285249
NM_001353955.2:c.5690C>T