ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827783342
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
202173
ClinVar RCV Id:
RCV000986878
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340886.1:p.Ile1454Leu
CA275462
NM_001353957.2:c.4360A>C