Canonical Allele Identifier: PA2827787420
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68575
ClinVar RCV Id: RCV000059451 RCV000522680 RCV000636440 RCV004019070
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Asp194Asn
CA285033
NM_001353960.2:c.580G>A