Canonical Allele Identifier: PA2827923740
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 191499
ClinVar RCV Id: RCV000171697 RCV000855502 RCV001842522
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341630.1:p.Ser1719Phe
CA018989
NM_001354701.2:c.5156C>T