Canonical Allele Identifier: PA2827776989
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68621
ClinVar RCV Id: RCV000059498 RCV003137601
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340883.1:p.Thr1248Pro
CA285141
NM_001353954.2:c.3742A>C