Canonical Allele Identifier: PA2827924100
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 36765
ClinVar RCV Id: RCV000030444 RCV000041632 RCV000058811 RCV000171770 RCV000148837 RCV000157493 RCV000245882 RCV000852961 RCV001148561 RCV001145802 RCV001148560 RCV001148562 RCV001148563 RCV001148564 RCV001841551 RCV003149588
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341630.1:p.Val1932Leu
CA019509
NM_001354701.2:c.5794G>T
CA352139705
NM_001354701.2:c.5794G>C