ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826260544
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68568
ClinVar RCV Id:
RCV000059443
RCV000693267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189364.1:p.Ser1773Phe
CA285015
NM_001202435.3:c.5318C>T