Canonical Allele Identifier: PA2828496712
Gene: STXBP1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361235.1:p.Glu59Lys
CA375176376
NM_001374306.2:c.175G>A