ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826258058
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1310742
ClinVar RCV Id:
RCV001767856
RCV001868493
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189364.1:p.Val126Ile
CA349076779
NM_001202435.3:c.376G>A