Canonical Allele Identifier: PA2825129363
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 1495062
ClinVar RCV Id: RCV003773273
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000326.2:p.Phe530Leu
CA352147305
NM_000335.5:c.1590C>G
CA352147306
NM_000335.5:c.1590C>A
CA352147320
NM_000335.5:c.1588T>C