Canonical Allele Identifier: PA330316
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 68041
ClinVar RCV Id: RCV000058844 RCV000489533
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_932173.1:p.Val247Leu
CA019780
NM_198056.3:c.739G>C
CA352150949
NM_198056.3:c.739G>T