ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827924186
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
229236
ClinVar RCV Id:
RCV000219261
RCV000766281
RCV002354612
RCV002500715
RCV001842985
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Ala1983Thr
CA10576613
NM_001354701.2:c.5947G>A