Canonical Allele Identifier: PA2828500224
Gene: STXBP1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361241.1:p.Leu155Met
CA374933051
NM_001374312.2:c.463C>A