ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA108348
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68621
ClinVar RCV Id:
RCV000059498
RCV003137601
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159435.1:p.Thr1260Pro
CA285141
NM_001165963.4:c.3778A>C