ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA265558
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67880
ClinVar RCV Id:
RCV000058660
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Pro1438Leu
CA018135
NM_001099404.2:c.4313C>T