ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825606249
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_001120868.1:p.Gly538Ser
CA260033
NM_001127396.3:c.1612G>A