Canonical Allele Identifier: PA2573314049
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 1483535
ClinVar RCV Id: RCV003657588

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_932173.1:p.Val1597Leu
CA352143615
NM_198056.3:c.4789G>T
CA352143616
NM_198056.3:c.4789G>C