ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827779923
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2034846
ClinVar RCV Id:
RCV002889741
RCV004536424
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Ser1219Ile
CA349055685
NM_001353955.2:c.3656G>T