Canonical Allele Identifier: PA2827752525
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68616
ClinVar RCV Id: RCV000059493 RCV000188915 RCV000296106 RCV000415355 RCV000655982 RCV000986890 RCV000723551 RCV001082811 RCV001129578 RCV002313744 RCV004537267
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Thr1174Ser
CA221580
NM_001353948.2:c.3521C>G
CA349056646
NM_001353948.2:c.3520A>T