ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827781181
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450597
ClinVar RCV Id:
RCV000523148
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Glu1959Gln
CA349063242
NM_001353955.2:c.5875G>C