Canonical Allele Identifier: PA2827786401
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 429417
ClinVar RCV Id: RCV000493824
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Asp1516His
CA349072277
NM_001353958.2:c.4546G>C