Canonical Allele Identifier: PA2828501388
Gene: STXBP1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361243.1:p.Leu169Met
CA374933051
NM_001374314.1:c.505C>A