Canonical Allele Identifier: PA2825944825
Gene: SCN5A HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153633.1:p.Leu1254Phe
CA017626
NM_001160161.2:c.3760C>T
CA085417
NM_001160161.2:c.[3760C>T;703+223G>A]