Canonical Allele Identifier: PA3057525308
Gene: SCN5A HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001092875.1:p.Lys591Glu
CA352146235
NM_001099405.2:c.1771A>G