ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827788950
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
663230
ClinVar RCV Id:
RCV000821070
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340889.1:p.Leu1280Val
CA349053265
NM_001353960.2:c.3838C>G