ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826258216
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68579
ClinVar RCV Id:
RCV000059455
RCV000636408
RCV000188842
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189364.1:p.Ile227Ser
CA285045
NM_001202435.3:c.680T>G