ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827783533
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000013756
RCV000013757
ClinVar Variation:
12895
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340886.1:p.Val1583Phe
CA256614
NM_001353957.2:c.4747G>T