ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA260035
Gene: STXBP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30219
ClinVar RCV Id:
RCV000024317
RCV000519780
RCV002262571
RCV003226166
RCV003398562
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008880.2:p.Gly541Ser
CA260033
NM_006949.4:c.1621G>A