ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825945765
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
923347
ClinVar RCV Id:
RCV001843200
RCV003656668
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153633.1:p.Glu1848Gln
CA352140265
NM_001160161.2:c.5542G>C