ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825605706
Gene: STXBP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
417965
ClinVar RCV Id:
RCV000477888
RCV000658815
RCV004526685
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120868.1:p.Arg187Cys
CA9143686
NM_001127396.3:c.559C>T