ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916005483
Gene: STXBP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258963.1:p.Pro488Leu
CA254261
NM_001272034.2:c.1463C>T