ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825497745
Gene: SCN5A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Phe1986Leu
CA019578
NM_001099405.2:c.5956T>C
CA065185
NM_001099405.2:c.5958C>G
CA352139097
NM_001099405.2:c.5958C>A