Canonical Allele Identifier: PA2825359803
Gene: STXBP1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001027392.1:p.Gln250Glu
CA374934084
NM_001032221.6:c.748C>G