ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827921429
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
924054
ClinVar RCV Id:
RCV001843243
RCV003727945
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Thr169Asn
CA352153939
NM_001354701.2:c.506C>A