ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825941519
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000154839
RCV000729899
RCV000852964
RCV001145076
RCV001145077
RCV001147026
RCV001147027
RCV001147028
RCV001147029
RCV001842482
RCV002321640
ClinVar Variation:
178130
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153632.1:p.Ala1087Thr
CA016979
NM_001160160.2:c.3259G>A