Canonical Allele Identifier: PA2827785917
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 3067157
ClinVar RCV Id: RCV003992846
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Met1239Ile
CA349054289
NM_001353958.2:c.3717G>T
CA349054291
NM_001353958.2:c.3717G>C
CA349054293
NM_001353958.2:c.3717G>A