ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827781124
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189893
ClinVar RCV Id:
RCV000180845
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Arg1915Thr
CA303228
NM_001353955.2:c.5744G>C