ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827778023
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68664
ClinVar RCV Id:
RCV000059544
RCV000180879
RCV001854247
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340883.1:p.Met1840Thr
CA266129
NM_001353954.2:c.5519T>C