Canonical Allele Identifier: PA2825945045
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 201591
ClinVar RCV Id: RCV000183192 RCV003989495 RCV002326986
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153633.1:p.Met1392Ile
CA018146
NM_001160161.2:c.4176G>A
CA352145442
NM_001160161.2:c.4176G>T
CA352145443
NM_001160161.2:c.4176G>C