ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916005394
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_001258963.1:p.Arg201Cys
CA9143686
NM_001272034.2:c.601C>T