ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828501804
Gene: STXBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361244.1:p.Leu6Pro
CA375173562
NM_001374315.2:c.17T>C