Canonical Allele Identifier: PA1139714800
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 844965
ClinVar RCV Id: RCV001047939
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Val229Leu
CA349074045
NM_006920.6:c.685G>C