Canonical Allele Identifier: PA2828496900
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2693125
ClinVar RCV Id: RCV003588952
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361235.1:p.Met249Val
CA374934114
NM_001374306.2:c.745A>G