ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827783535
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2781664
ClinVar RCV Id:
RCV003753385
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340886.1:p.Val1584Phe
CA349071299
NM_001353957.2:c.4750G>T