Canonical Allele Identifier: PA2828498650
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1017158
ClinVar RCV Id: RCV001316272
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361238.1:p.Gly258Arg
CA374934548
NM_001374309.2:c.772G>A
CA374934550
NM_001374309.2:c.772G>C