ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825359770
Gene: STXBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450327
ClinVar RCV Id:
RCV000519228
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001027392.1:p.Gly236Asp
CA374933892
NM_001032221.6:c.707G>A