ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827780671
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189922
ClinVar RCV Id:
RCV000180874
RCV002515208
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Ser1654Phe
CA303314
NM_001353955.2:c.4961C>T