ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA265746
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67951
ClinVar RCV Id:
RCV000058736
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Ser1672Tyr
CA018848
NM_001099404.2:c.5015C>A