ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827773981
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68533
ClinVar RCV Id:
RCV000059406
RCV000636387
RCV000188926
RCV001836729
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340881.1:p.Arg1234Gln
CA284931
NM_001353952.2:c.3701G>A