Canonical Allele Identifier: PA2827923791
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 519384
ClinVar Variation Id: 2027600
ClinVar RCV Id: RCV003658312

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341630.1:p.Met1747Ile
CA352141596
NM_001354701.2:c.5241G>A
CA352141598
NM_001354701.2:c.5241G>T
CA352141600
NM_001354701.2:c.5241G>C