Canonical Allele Identifier: PA2827921979
Gene: SCN5A HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341630.1:p.Ser560Leu
CA352146756
NM_001354701.2:c.1679C>T