ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827923388
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67906
ClinVar RCV Id:
RCV000058686
RCV002336210
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Ser1484Pro
CA018376
NM_001354701.2:c.4450T>C