ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645504756
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
379063
ClinVar RCV Id:
RCV000432154
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Met794Thr
CA16604918
NM_198056.3:c.2381T>C