ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828497246
Gene: STXBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361236.1:p.Val16Met
CA375176169
NM_001374307.2:c.46G>A