Canonical Allele Identifier: PA2499303197
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 1044155
ClinVar Variation Id: 1315442
ClinVar RCV Id: RCV001774692

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_932173.1:p.Asn194Lys
CA352153591
NM_198056.3:c.582C>G
CA352153592
NM_198056.3:c.582C>A