ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827771309
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68630
ClinVar RCV Id:
RCV000059509
RCV000521069
RCV001067468
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340880.1:p.Gly1422Glu
CA285162
NM_001353951.2:c.4265G>A