Canonical Allele Identifier: PA2825945769
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 48310
ClinVar RCV Id: RCV000041630 RCV000058802 RCV000148839 RCV000234983 RCV000620507 RCV000987195 RCV001841613
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153633.1:p.Ser1850Leu
CA019439
NM_001160161.2:c.5549C>T