ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829675975
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
372903
ClinVar RCV Id:
RCV000414265
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Gln1416Leu
CA16042437
NM_006920.6:c.4247A>T