ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825130920
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
935348
ClinVar RCV Id:
RCV003656456
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Ala1185Asp
CA352138211
NM_000335.5:c.3554C>A