ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826011441
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206927
ClinVar RCV Id:
RCV000189071
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159436.1:p.Thr105Ile
CA317748
NM_001165964.3:c.314C>T