Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2828498925

Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207440

ClinVar RCV Id: RCV000189623 RCV000415936 RCV001265516 RCV001420235 RCV001071757 RCV003126574

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361238.1:p.Arg537Cys	CA318892 NM_001374309.2:c.1609C>T