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Canonical Allele Identifier: Get Identifier
Gene: STXBP1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361242.1:p.[Asn548_Met550delinsLys;Tyr554_Gln558del;Asn560_Trp570del;Phe572_Arg573del;Leu575_Ala576del]
CA1139661169
NM_001374313.2:c.1644del