ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825359612
Gene: STXBP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000147709
ClinVar Variation:
160073
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001027392.1:p.Tyr145His
CA173642
NM_001032221.6:c.433T>C