ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645405185
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374394
ClinVar RCV Id:
RCV000414903
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159435.1:p.Val1784Ala
CA16043651
NM_001165963.4:c.5351T>C