ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829681092
Gene: STXBP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1508023
ClinVar RCV Id:
RCV002040310
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008880.2:p.Val538Ile
CA403162062
NM_006949.4:c.1612G>A