ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA265660
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67918
ClinVar RCV Id:
RCV000058699
RCV002336212
RCV003539784
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Glu1574Lys
CA018503
NM_001099404.2:c.4720G>A