ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828501348
Gene: STXBP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001036492
ClinVar Variation:
835576
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361243.1:p.Arg122Gly
CA374932306
NM_001374314.1:c.364C>G