ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825129531
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2774478
ClinVar RCV Id:
RCV003592360
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Thr594Ile
CA352146184
NM_000335.5:c.1781C>T