ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916036689
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000013751
RCV000059501
RCV002513023
ClinVar Variation:
12891
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340890.1:p.Lys456Thr
CA256602
NM_001353961.2:c.1367A>C