ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827773334
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68590
ClinVar RCV Id:
RCV000059466
RCV002514307
RCV003992173
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340881.1:p.Tyr779Cys
CA266101
NM_001353952.2:c.2336A>G