ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825128399
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2774498
ClinVar RCV Id:
RCV003592380
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.His118Pro
CA352156956
NM_000335.5:c.353A>C