ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA201913
Gene: SCN5A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Leu1308Phe
CA017626
NM_198056.3:c.3922C>T
CA085417
NM_198056.3:c.[3922C>T;694G>A]