ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2499303173
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1044046
ClinVar RCV Id:
RCV003770989
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Arg190Pro
CA352153699
NM_198056.3:c.569G>C