Canonical Allele Identifier: PA2825943838
Gene: SCN5A HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153633.1:p.Thr594Ile
CA352146184
NM_001160161.2:c.1781C>T