ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827781145
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
530419
ClinVar RCV Id:
RCV000636278
RCV001089689
RCV001706692
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Ala1926Val
CA59797796
NM_001353955.2:c.5777C>T