ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645481035
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_008880.2:p.Arg190Cys
CA9143686
NM_006949.4:c.568C>T