ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825359521
Gene: STXBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1796809
ClinVar RCV Id:
RCV002435340
RCV003753245
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001027392.1:p.Pro95Leu
CA374931756
NM_001032221.6:c.284C>T