Canonical Allele Identifier: PA2827753205
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189991
ClinVar RCV Id: RCV000180947
ClinVar Variation Id: 429551
ClinVar RCV Id: RCV000493892
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Met1348Ile
CA303495
NM_001353948.2:c.4044G>A
CA59769826
NM_001353948.2:c.4044G>C
CA349050717
NM_001353948.2:c.4044G>T