Canonical Allele Identifier: PA2828498609
Gene: STXBP1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361238.1:p.Arg221Gly
CA318915
NM_001374309.2:c.661C>G