ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825497011
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67980
ClinVar RCV Id:
RCV000058766
RCV000183198
RCV000620629
RCV000660252
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Ile1750Val
CA019094
NM_001099405.2:c.5248A>G