Canonical Allele Identifier: PA2742029151
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 2762740
ClinVar RCV Id: RCV003570233

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_932173.1:p.Ser549Arg
CA352146981
NM_198056.3:c.1647C>G
CA352146984
NM_198056.3:c.1647C>A
CA352147000
NM_198056.3:c.1645A>C