ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828498745
Gene: STXBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2769274
ClinVar RCV Id:
RCV003591009
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361238.1:p.Asp357Tyr
CA374936694
NM_001374309.2:c.1069G>T