Canonical Allele Identifier: PA2827787530
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68673
ClinVar RCV Id: RCV000059553 RCV000678837
ClinVar Variation Id: 3067163
ClinVar RCV Id: RCV003992852
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Ser259Arg
CA285258
NM_001353960.2:c.777C>A
CA349073448
NM_001353960.2:c.777C>G
CA349073464
NM_001353960.2:c.775A>C