ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
Get Identifier
Gene: SCN5A
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
ENSP00000403355.2:p.Leu1254Phe
CA017626
ENST00000450102.6:c.3760C>T
CA085417
ENST00000450102.6:c.[3760C>T;703+223G>A]