Canonical Allele Identifier: PA916036437
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68598
ClinVar RCV Id: RCV000059475 RCV000188897 RCV000636409 RCV004542733
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Arg931Cys
CA273369
NM_001353948.2:c.2791C>T