ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827772766
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
279592
ClinVar RCV Id:
RCV000258942
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340881.1:p.Ala342Glu
CA10602709
NM_001353952.2:c.1025C>A