Canonical Allele Identifier: PA2825497199
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 48308
ClinVar RCV Id: RCV000041628 RCV000058787 RCV000245837 RCV000622807 RCV001507623 RCV001841611
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001092875.1:p.Gln1814Glu
CA019294
NM_001099405.2:c.5440C>G