ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA274793
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
191502
ClinVar RCV Id:
RCV000171701
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Ala647Val
CA015614
NM_198056.3:c.1940C>T