Canonical Allele Identifier: PA2827763064
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1511616
ClinVar RCV Id: RCV002043376
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340879.1:p.Met251Leu
CA349073604
NM_001353950.2:c.751A>T
CA349073609
NM_001353950.2:c.751A>C