ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828499488
Gene: STXBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1435356
ClinVar RCV Id:
RCV001984885
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361239.1:p.Met536Lys
CA374939441
NM_001374310.2:c.1607T>A