Canonical Allele Identifier: PA2742029184
Gene: SCN5A HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_932173.1:p.Thr594Ile
CA352146184
NM_198056.3:c.1781C>T