ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580229513
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1977542
ClinVar RCV Id:
RCV002750763
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Met1977Val
CA349063173
NM_001353948.2:c.5929A>G