Canonical Allele Identifier: PA2827922029
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 2499691
ClinVar RCV Id: RCV003223783

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341630.1:p.Asp596Glu
CA352146158
NM_001354701.2:c.1788C>G
CA352146160
NM_001354701.2:c.1788C>A