ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825943717
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1002978
ClinVar RCV Id:
RCV001299473
RCV004004988
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153633.1:p.Lys521Glu
CA058165
NM_001160161.2:c.1561A>G