Canonical Allele Identifier: PA2827785862
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2086222
ClinVar RCV Id: RCV003007379
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Ser1204Arg
CA349055656
NM_001353958.2:c.3612T>G
CA349055659
NM_001353958.2:c.3612T>A
CA349055672
NM_001353958.2:c.3610A>C