ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827782973
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
852276
ClinVar RCV Id:
RCV001056848
RCV003259069
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340886.1:p.Tyr1248Phe
CA349054146
NM_001353957.2:c.3743A>T