ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825538480
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
921450
ClinVar RCV Id:
RCV001843079
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Glu952Lys
CA060975
NM_001099404.2:c.2854G>A