Canonical Allele Identifier: PA2825940786
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 2499691
ClinVar RCV Id: RCV003223783
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153632.1:p.Asp596Glu
CA352146158
NM_001160160.2:c.1788C>G
CA352146160
NM_001160160.2:c.1788C>A