ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826259675
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2092053
ClinVar RCV Id:
RCV003008111
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189364.1:p.Tyr1279Cys
CA349054084
NM_001202435.3:c.3836A>G