Canonical Allele Identifier: PA2499303281
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 1171933
ClinVar RCV Id: RCV001842120
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_932173.1:p.Phe532Leu
CA058332
NM_198056.3:c.1594T>C
CA352147266
NM_198056.3:c.1596T>G
CA352147268
NM_198056.3:c.1596T>A