Canonical Allele Identifier: PA2827772593
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2101470
ClinVar RCV Id: RCV003016923
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.Val237Leu
CA349073817
NM_001353952.2:c.709G>T
CA349073818
NM_001353952.2:c.709G>C