Canonical Allele Identifier: PA2828501196
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 984865
ClinVar RCV Id: RCV001265419 RCV003588731
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361242.1:p.Cys552Arg
CA374939488
NM_001374313.2:c.1654T>C