Canonical Allele Identifier: PA2828500978
Gene: STXBP1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361242.1:p.Pro335Ser
CA374935919
NM_001374313.2:c.1003C>T