ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829676470
Gene: SCN1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Val1750Ala
CA16042356
NM_006920.6:c.5249T>C