ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827772389
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
623983
ClinVar RCV Id:
RCV000762057
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340881.1:p.Ala107Val
CA349077069
NM_001353952.2:c.320C>T