Canonical Allele Identifier: PA2827923295
Gene: SCN5A HGNC NCBI
ClinVar RCV:
RCV000481094
ClinVar Variation:
418616
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341630.1:p.Tyr1428His
CA16617946
NM_001354701.2:c.4282T>C