ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825129771
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
423924
ClinVar RCV Id:
RCV000482322
RCV001841399
RCV002420242
RCV002481535
RCV003766725
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Arg693Cys
CA059716
NM_000335.5:c.2077C>T