ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA256616
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_008851.3:p.Val1600Phe
CA256614
NM_006920.6:c.4798G>T