Canonical Allele Identifier: PA2828501281
Gene: STXBP1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361243.1:p.Thr56Arg
CA318913
NM_001374314.1:c.167C>G