Canonical Allele Identifier: PA2825493252
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 48284
ClinVar RCV Id: RCV000041599 RCV000058424 RCV000203074 RCV000238622 RCV000249137 RCV000471899 RCV001148787 RCV001148788 RCV001148784 RCV001148786 RCV001148783 RCV001841588 RCV001148785
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001092875.1:p.Arg481Trp
CA014875
NM_001099405.2:c.1441C>T