ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826260229
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12895
ClinVar RCV Id:
RCV000013756
RCV000013757
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189364.1:p.Val1611Phe
CA256614
NM_001202435.3:c.4831G>T