Canonical Allele Identifier: PA2828497319
Gene: STXBP1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361236.1:p.Arg86Gln
CA5248286
NM_001374307.2:c.257G>A