ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827778340
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68597
ClinVar RCV Id:
RCV000059474
RCV000819332
RCV003157390
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Ile91Thr
CA285081
NM_001353955.2:c.272T>C