ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825944879
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406429
ClinVar RCV Id:
RCV003317213
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153633.1:p.Leu1288Phe
CA16611264
NM_001160161.2:c.3862C>T