Canonical Allele Identifier: PA2825940689
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 180512
ClinVar RCV Id: RCV000157479 RCV000182980 RCV000308105 RCV000272892 RCV000277355 RCV000269424 RCV000365101 RCV000388106 RCV000619790 RCV001842500 RCV002478471 RCV003227681 RCV003149961
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153632.1:p.Arg533His
CA015061
NM_001160160.2:c.1598G>A