ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825941474
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201565
ClinVar RCV Id:
RCV000183159
RCV002321727
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153632.1:p.Glu1064del
CA016894
NM_001160160.2:c.3190_3192del