Canonical Allele Identifier: PA285194
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68643
ClinVar RCV Id: RCV000059523 RCV000529623
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Thr1647Met
CA285192
NM_006920.6:c.4940C>T