ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827776841
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
805382
ClinVar RCV Id:
RCV000992879
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340883.1:p.Val1157Ala
CA349056680
NM_001353954.2:c.3470T>C