Canonical Allele Identifier: PA2828501190
Gene: STXBP1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361242.1:p.Arg551Cys
CA318892
NM_001374313.2:c.1651C>T