ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645402658
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
265297
ClinVar RCV Id:
RCV000255269
RCV000763462
RCV002521851
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Leu221Val
CA10588324
NM_006920.6:c.661C>G