ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827789130
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
848474
ClinVar RCV Id:
RCV001052241
RCV003106104
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340889.1:p.Val1382Met
CA349049976
NM_001353960.2:c.4144G>A