Canonical Allele Identifier: PA2827778501
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68575
ClinVar RCV Id: RCV000059451 RCV000522680 RCV000636440 RCV004019070
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.Asp194Asn
CA285033
NM_001353955.2:c.580G>A