ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827767701
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68648
ClinVar RCV Id:
RCV000059528
RCV001854246
RCV003992176
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340879.1:p.Ala1674Val
CA266120
NM_001353950.2:c.5021C>T