ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3085875617
Gene: STXBP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008880.2:p.Pro477Arg
CA403161670
NM_006949.4:c.1430C>G