ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916036724
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68535
ClinVar RCV Id:
RCV000059408
RCV001202491
RCV003352765
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340890.1:p.Val521Met
CA284934
NM_001353961.2:c.1561G>A