Canonical Allele Identifier: PA2825497612
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 2119739
ClinVar RCV Id: RCV003658688
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001092875.1:p.Ser1947Arg
CA352139537
NM_001099405.2:c.5841C>G
CA352139539
NM_001099405.2:c.5841C>A
CA352139548
NM_001099405.2:c.5839A>C