ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825940717
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2091499
ClinVar RCV Id:
RCV003658552
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153632.1:p.Glu553Lys
CA352146931
NM_001160160.2:c.1657G>A