ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658659353
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
461267
ClinVar RCV Id:
RCV000556885
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159435.1:p.Ala1301Val
CA349053415
NM_001165963.4:c.3902C>T