Canonical Allele Identifier: PA2825496989
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67977
ClinVar RCV Id: RCV000058763
ClinVar Variation Id: 446418
ClinVar RCV Id: RCV000515650

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001092875.1:p.Met1748Leu
CA019076
NM_001099405.2:c.5242A>C
CA352141606
NM_001099405.2:c.5242A>T