ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827759538
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68623
ClinVar RCV Id:
RCV000059500
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340878.1:p.Leu1254Pro
CA285147
NM_001353949.2:c.3761T>C