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: PA2828499197

Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 984903

ClinVar RCV Id: RCV001265517 RCV003588732

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361239.1:p.Met238Thr	CA374934121 NM_001374310.2:c.713T>C