ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA3057522347
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV005177304
ClinVar Variation:
3706935
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Arg533Leu
CA352147254
NM_198056.3:c.1598G>T