Canonical Allele Identifier: PA145103
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67823
ClinVar RCV Id: RCV000058598
ClinVar Variation Id: 917994
ClinVar RCV Id: RCV001175239 RCV003656441
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001092874.1:p.Phe1250Leu
CA017490
NM_001099404.2:c.3748T>C
CA352149188
NM_001099404.2:c.3750C>G
CA352149189
NM_001099404.2:c.3750C>A