ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826258402
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189960
ClinVar RCV Id:
RCV000180914
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189364.1:p.Ala342Val
CA303409
NM_001202435.3:c.1025C>T