Canonical Allele Identifier: PA143142
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 48313
ClinVar RCV Id: RCV000041634 RCV000058813 RCV000620208 RCV001145796 RCV001145797 RCV001145798 RCV001145799 RCV001145801 RCV001145800 RCV001841616
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_932173.1:p.Pro1962Leu
CA019523
NM_198056.3:c.5885C>T