ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827754235
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059428
RCV000584823
RCV000636349
ClinVar Variation:
68554
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Asp1608Tyr
CA284982
NM_001353948.2:c.4822G>T