ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645401890
Gene: STXBP1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_003156.1:p.Gln250Ter
NM_003165.6:c.748C>T